Canonical Allele Identifier: CA375311413

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1395773
• ClinVar RCV Id: RCV001887254
• dbSNP Id: rs2131848570
• MyVariant Identifiers: chr9:g.134393894T>G (hg19) ; chr9:g.131518507T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518507T>G , CM000671.2:g.131518507T>G	GRCh38
NC_000009.11:g.134393894T>G , CM000671.1:g.134393894T>G	GRCh37
NC_000009.10:g.133383715T>G	NCBI36
NG_008896.1:g.20606T>G
NG_008896.2:g.20606T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1173T>G	ENSP00000343034.7:p.Phe391Leu
ENST00000404875.7:n.1875T>G
ENST00000423007.6:c.1392T>G	ENSP00000404119.2:p.Phe464Leu
ENST00000677295.2:c.*1679T>G	ENSP00000504346.2:n.*1679T>G
ENST00000678264.2:c.*1518T>G	ENSP00000503157.2:n.*1518T>G
ENST00000682070.1:n.1800T>G
ENST00000682535.1:n.107T>G
ENST00000682539.1:c.273T>G
ENST00000682813.1:n.1600T>G
ENST00000683110.1:n.63T>G
ENST00000683392.1:n.4082T>G
ENST00000683712.1:n.1740T>G
ENST00000683900.1:n.3235T>G
ENST00000684062.1:n.2001T>G
ENST00000684579.1:n.3181T>G
ENST00000684679.1:n.562T>G
ENST00000341012.12:c.1173T>G	ENSP00000343034.7:p.Phe391Leu
ENST00000372220.5:c.204T>G	ENSP00000361294.5:p.Phe68Leu
ENST00000372228.9:c.1401T>G	ENSP00000361302.3:p.Phe467Leu
ENST00000402686.8:c.1335T>G MANE Select	ENSP00000385797.4:p.Phe445Leu
ENST00000676640.1:c.1335T>G	ENSP00000503281.1:p.Phe445Leu
ENST00000676803.1:c.510T>G	ENSP00000503093.1:p.Phe170Leu
ENST00000676835.1:c.*550T>G	ENSP00000502911.1:n.*550T>G
ENST00000677029.1:c.879T>G	ENSP00000502936.1:p.Phe293Leu
ENST00000677099.1:c.*1045T>G	ENSP00000504553.1:n.*1045T>G
ENST00000677216.1:c.984T>G	ENSP00000503772.1:p.Phe328Leu
ENST00000677221.1:n.360T>G
ENST00000677295.1:c.*712T>G	ENSP00000504346.1:n.*712T>G
ENST00000677444.1:c.1141T>G
ENST00000677586.1:n.816T>G
ENST00000677626.1:c.984T>G	ENSP00000503552.1:p.Phe328Leu
ENST00000677677.1:n.1295T>G
ENST00000677853.1:c.*343T>G	ENSP00000503488.1:n.*343T>G
ENST00000677983.1:n.424T>G
ENST00000678202.1:n.355T>G
ENST00000678264.1:c.*712T>G	ENSP00000503157.1:n.*712T>G
ENST00000678303.1:c.1245T>G	ENSP00000503696.1:p.Phe415Leu
ENST00000678366.1:c.*1584T>G	ENSP00000504353.1:n.*1584T>G
ENST00000678546.1:c.*1280T>G	ENSP00000503062.1:n.*1280T>G
ENST00000678548.1:c.*1407T>G	ENSP00000503934.1:n.*1407T>G
ENST00000678626.1:n.1032T>G
ENST00000678733.1:c.416T>G
ENST00000678739.1:c.*1661T>G	ENSP00000503806.1:n.*1661T>G
ENST00000678795.1:n.422T>G
ENST00000678833.1:c.*782T>G	ENSP00000503893.1:n.*782T>G
ENST00000678942.1:c.515T>G	ENSP00000504690.1:n.515T>G
ENST00000679023.1:c.1173T>G	ENSP00000503718.1:p.Phe391Leu
ENST00000679076.1:c.954T>G
ENST00000679111.1:c.1335T>G	ENSP00000504257.1:p.Phe445Leu
ENST00000679189.1:c.984T>G	ENSP00000503356.1:p.Phe328Leu
ENST00000341012.11:c.1173T>G	ENSP00000343034.7:p.Phe391Leu
ENST00000372220.4:c.198T>G	ENSP00000361294.4:p.Phe66Leu
ENST00000372228.7:c.1401T>G	ENSP00000361302.3:p.Phe467Leu
ENST00000402686.7:c.1335T>G	ENSP00000385797.3:p.Phe445Leu
ENST00000404875.6:c.984T>G	ENSP00000384531.2:p.Phe328Leu
ENST00000423007.5:c.1335T>G	ENSP00000404119.1:p.Phe445Leu
ENST00000485278.5:n.1890T>G
NM_001077365.1:c.1335T>G	NP_001070833.1:p.Phe445Leu
NM_001077366.1:c.1173T>G	NP_001070834.1:p.Phe391Leu
NM_001136113.1:c.1335T>G	NP_001129585.1:p.Phe445Leu
NM_001136114.1:c.984T>G	NP_001129586.1:p.Phe328Leu
NM_007171.3:c.1401T>G	NP_009102.3:p.Phe467Leu
XM_005272156.1:c.1401T>G	XP_005272213.1:p.Phe467Leu
XM_005272158.1:c.1239T>G	XP_005272215.1:p.Phe413Leu
XM_005272159.1:c.1050T>G	XP_005272216.1:p.Phe350Leu
XM_005272162.1:c.204T>G	XP_005272219.1:p.Phe68Leu
XM_006716932.1:c.1050T>G	XP_006716995.1:p.Phe350Leu
XM_011518140.1:c.1254T>G	XP_011516442.1:p.Phe418Leu
XM_011518141.1:c.1188T>G	XP_011516443.1:p.Phe396Leu
XM_011518142.1:c.1092T>G	XP_011516444.1:p.Phe364Leu
XM_011518143.1:c.1086T>G	XP_011516445.1:p.Phe362Leu
XM_011518144.1:c.1401T>G	XP_011516446.1:p.Phe467Leu
XM_011518145.1:c.945T>G	XP_011516447.1:p.Phe315Leu
XM_011518146.1:c.1086T>G	XP_011516448.1:p.Phe362Leu
XM_011518147.1:c.273T>G	XP_011516449.1:p.Phe91Leu
XR_929703.1:n.1577T>G
NM_001353193.1:c.1401T>G	NP_001340122.1:p.Phe467Leu
NM_001353194.1:c.1173T>G	NP_001340123.1:p.Phe391Leu
NM_001353195.1:c.984T>G	NP_001340124.1:p.Phe328Leu
NM_001353196.1:c.1245T>G	NP_001340125.1:p.Phe415Leu
NM_001353197.1:c.1239T>G	NP_001340126.1:p.Phe413Leu
NM_001353198.1:c.1239T>G	NP_001340127.1:p.Phe413Leu
NM_001353199.1:c.1050T>G	NP_001340128.1:p.Phe350Leu
NM_001353200.1:c.879T>G	NP_001340129.1:p.Phe293Leu
NR_148391.1:n.1385T>G
NR_148392.1:n.1603T>G
NR_148393.1:n.1385T>G
NR_148394.1:n.1278T>G
NR_148395.1:n.1537T>G
NR_148396.1:n.1171T>G
NR_148397.1:n.1435T>G
NR_148398.1:n.1390T>G
NR_148399.1:n.1777T>G
NR_148400.1:n.1376T>G
XM_005272162.3:c.204T>G	XP_005272219.1:p.Phe68Leu
XM_006716932.2:c.1050T>G	XP_006716995.1:p.Phe350Leu
XM_011518140.2:c.1254T>G	XP_011516442.1:p.Phe418Leu
XM_011518141.2:c.1188T>G	XP_011516443.1:p.Phe396Leu
XM_011518142.2:c.1092T>G	XP_011516444.1:p.Phe364Leu
XM_011518143.2:c.1086T>G	XP_011516445.1:p.Phe362Leu
XM_011518145.2:c.945T>G	XP_011516447.1:p.Phe315Leu
XM_017014205.2:c.204T>G	XP_016869694.1:p.Phe68Leu
XM_024447380.1:c.204T>G	XP_024303148.1:p.Phe68Leu
XM_024447381.1:c.510T>G	XP_024303149.1:p.Phe170Leu
XM_024447382.1:c.204T>G	XP_024303150.1:p.Phe68Leu
XR_001746160.2:n.1505T>G
XR_001746162.2:n.1571T>G
XR_001746164.1:n.1288T>G
XR_001746166.2:n.1722T>G
NM_001077365.2:c.1335T>G MANE Select	NP_001070833.1:p.Phe445Leu
NM_001077366.2:c.1173T>G	NP_001070834.1:p.Phe391Leu
NM_001136113.2:c.1335T>G	NP_001129585.1:p.Phe445Leu
NM_001136114.2:c.984T>G	NP_001129586.1:p.Phe328Leu
NM_001353193.2:c.1401T>G	NP_001340122.2:p.Phe467Leu
NM_001353194.2:c.1173T>G	NP_001340123.1:p.Phe391Leu
NM_001353195.2:c.984T>G	NP_001340124.1:p.Phe328Leu
NM_001353196.2:c.1245T>G	NP_001340125.1:p.Phe415Leu
NM_001353197.2:c.1239T>G	NP_001340126.2:p.Phe413Leu
NM_001353198.2:c.1239T>G	NP_001340127.2:p.Phe413Leu
NM_001353199.2:c.1050T>G	NP_001340128.2:p.Phe350Leu
NM_001353200.2:c.879T>G	NP_001340129.1:p.Phe293Leu
NM_001374689.1:c.1323T>G	NP_001361618.1:p.Phe441Leu
NM_001374690.1:c.1335T>G	NP_001361619.1:p.Phe445Leu
NM_001374691.1:c.984T>G	NP_001361620.1:p.Phe328Leu
NM_001374692.1:c.984T>G	NP_001361621.1:p.Phe328Leu
NM_001374693.1:c.984T>G	NP_001361622.1:p.Phe328Leu
NM_001374695.1:c.945T>G	NP_001361624.1:p.Phe315Leu
NM_007171.4:c.1401T>G	NP_009102.4:p.Phe467Leu
NR_148391.2:n.1369T>G
NR_148392.2:n.1587T>G
NR_148393.2:n.1369T>G
NR_148394.2:n.1262T>G
NR_148395.2:n.1521T>G
NR_148396.2:n.1155T>G
NR_148397.2:n.1419T>G
NR_148398.2:n.1374T>G
NR_148399.2:n.1761T>G
NR_148400.2:n.1360T>G