Canonical Allele Identifier: CA375311094

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393839T>C (hg19) ; chr9:g.131518452T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518452T>C , CM000671.2:g.131518452T>C	GRCh38
NC_000009.11:g.134393839T>C , CM000671.1:g.134393839T>C	GRCh37
NC_000009.10:g.133383660T>C	NCBI36
NG_008896.1:g.20551T>C
NG_008896.2:g.20551T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1118T>C	ENSP00000343034.7:p.Val373Ala
ENST00000404875.7:n.1820T>C
ENST00000423007.6:c.1337T>C	ENSP00000404119.2:p.Val446Ala
ENST00000677295.2:c.*1624T>C	ENSP00000504346.2:n.*1624T>C
ENST00000678264.2:c.*1463T>C	ENSP00000503157.2:n.*1463T>C
ENST00000682070.1:n.1745T>C
ENST00000682535.1:n.52T>C
ENST00000682539.1:c.218T>C
ENST00000682813.1:n.1545T>C
ENST00000683110.1:n.8T>C
ENST00000683392.1:n.4027T>C
ENST00000683712.1:n.1685T>C
ENST00000683900.1:n.3180T>C
ENST00000684062.1:n.1946T>C
ENST00000684579.1:n.3126T>C
ENST00000684679.1:n.507T>C
ENST00000341012.12:c.1118T>C	ENSP00000343034.7:p.Val373Ala
ENST00000372220.5:c.149T>C	ENSP00000361294.5:p.Val50Ala
ENST00000372228.9:c.1346T>C	ENSP00000361302.3:p.Val449Ala
ENST00000402686.8:c.1280T>C MANE Select	ENSP00000385797.4:p.Val427Ala
ENST00000676640.1:c.1280T>C	ENSP00000503281.1:p.Val427Ala
ENST00000676803.1:c.455T>C	ENSP00000503093.1:p.Val152Ala
ENST00000676835.1:c.*495T>C	ENSP00000502911.1:n.*495T>C
ENST00000677029.1:c.824T>C	ENSP00000502936.1:p.Val275Ala
ENST00000677099.1:c.*990T>C	ENSP00000504553.1:n.*990T>C
ENST00000677216.1:c.929T>C	ENSP00000503772.1:p.Val310Ala
ENST00000677221.1:n.305T>C
ENST00000677295.1:c.*657T>C	ENSP00000504346.1:n.*657T>C
ENST00000677444.1:c.1086T>C
ENST00000677586.1:n.761T>C
ENST00000677626.1:c.929T>C	ENSP00000503552.1:p.Val310Ala
ENST00000677677.1:n.1240T>C
ENST00000677853.1:c.*288T>C	ENSP00000503488.1:n.*288T>C
ENST00000677944.1:c.542T>C
ENST00000677983.1:n.369T>C
ENST00000678202.1:n.300T>C
ENST00000678264.1:c.*657T>C	ENSP00000503157.1:n.*657T>C
ENST00000678303.1:c.1190T>C	ENSP00000503696.1:p.Val397Ala
ENST00000678366.1:c.*1529T>C	ENSP00000504353.1:n.*1529T>C
ENST00000678546.1:c.*1225T>C	ENSP00000503062.1:n.*1225T>C
ENST00000678548.1:c.*1352T>C	ENSP00000503934.1:n.*1352T>C
ENST00000678626.1:n.977T>C
ENST00000678733.1:c.361T>C
ENST00000678739.1:c.*1606T>C	ENSP00000503806.1:n.*1606T>C
ENST00000678795.1:n.367T>C
ENST00000678833.1:c.*727T>C	ENSP00000503893.1:n.*727T>C
ENST00000678942.1:c.460T>C	ENSP00000504690.1:n.460T>C
ENST00000679023.1:c.1118T>C	ENSP00000503718.1:p.Val373Ala
ENST00000679076.1:c.899T>C
ENST00000679111.1:c.1280T>C	ENSP00000504257.1:p.Val427Ala
ENST00000679189.1:c.929T>C	ENSP00000503356.1:p.Val310Ala
ENST00000341012.11:c.1118T>C	ENSP00000343034.7:p.Val373Ala
ENST00000372220.4:c.143T>C	ENSP00000361294.4:p.Val48Ala
ENST00000372228.7:c.1346T>C	ENSP00000361302.3:p.Val449Ala
ENST00000402686.7:c.1280T>C	ENSP00000385797.3:p.Val427Ala
ENST00000404875.6:c.929T>C	ENSP00000384531.2:p.Val310Ala
ENST00000423007.5:c.1280T>C	ENSP00000404119.1:p.Val427Ala
ENST00000485278.5:n.1835T>C
NM_001077365.1:c.1280T>C	NP_001070833.1:p.Val427Ala
NM_001077366.1:c.1118T>C	NP_001070834.1:p.Val373Ala
NM_001136113.1:c.1280T>C	NP_001129585.1:p.Val427Ala
NM_001136114.1:c.929T>C	NP_001129586.1:p.Val310Ala
NM_007171.3:c.1346T>C	NP_009102.3:p.Val449Ala
XM_005272156.1:c.1346T>C	XP_005272213.1:p.Val449Ala
XM_005272158.1:c.1184T>C	XP_005272215.1:p.Val395Ala
XM_005272159.1:c.995T>C	XP_005272216.1:p.Val332Ala
XM_005272162.1:c.149T>C	XP_005272219.1:p.Val50Ala
XM_006716932.1:c.995T>C	XP_006716995.1:p.Val332Ala
XM_011518140.1:c.1199T>C	XP_011516442.1:p.Val400Ala
XM_011518141.1:c.1133T>C	XP_011516443.1:p.Val378Ala
XM_011518142.1:c.1037T>C	XP_011516444.1:p.Val346Ala
XM_011518143.1:c.1031T>C	XP_011516445.1:p.Val344Ala
XM_011518144.1:c.1346T>C	XP_011516446.1:p.Val449Ala
XM_011518145.1:c.890T>C	XP_011516447.1:p.Val297Ala
XM_011518146.1:c.1031T>C	XP_011516448.1:p.Val344Ala
XM_011518147.1:c.218T>C	XP_011516449.1:p.Val73Ala
XR_929703.1:n.1522T>C
NM_001353193.1:c.1346T>C	NP_001340122.1:p.Val449Ala
NM_001353194.1:c.1118T>C	NP_001340123.1:p.Val373Ala
NM_001353195.1:c.929T>C	NP_001340124.1:p.Val310Ala
NM_001353196.1:c.1190T>C	NP_001340125.1:p.Val397Ala
NM_001353197.1:c.1184T>C	NP_001340126.1:p.Val395Ala
NM_001353198.1:c.1184T>C	NP_001340127.1:p.Val395Ala
NM_001353199.1:c.995T>C	NP_001340128.1:p.Val332Ala
NM_001353200.1:c.824T>C	NP_001340129.1:p.Val275Ala
NR_148391.1:n.1330T>C
NR_148392.1:n.1548T>C
NR_148393.1:n.1330T>C
NR_148394.1:n.1223T>C
NR_148395.1:n.1482T>C
NR_148396.1:n.1116T>C
NR_148397.1:n.1380T>C
NR_148398.1:n.1335T>C
NR_148399.1:n.1722T>C
NR_148400.1:n.1321T>C
XM_005272162.3:c.149T>C	XP_005272219.1:p.Val50Ala
XM_006716932.2:c.995T>C	XP_006716995.1:p.Val332Ala
XM_011518140.2:c.1199T>C	XP_011516442.1:p.Val400Ala
XM_011518141.2:c.1133T>C	XP_011516443.1:p.Val378Ala
XM_011518142.2:c.1037T>C	XP_011516444.1:p.Val346Ala
XM_011518143.2:c.1031T>C	XP_011516445.1:p.Val344Ala
XM_011518145.2:c.890T>C	XP_011516447.1:p.Val297Ala
XM_017014205.2:c.149T>C	XP_016869694.1:p.Val50Ala
XM_024447380.1:c.149T>C	XP_024303148.1:p.Val50Ala
XM_024447381.1:c.455T>C	XP_024303149.1:p.Val152Ala
XM_024447382.1:c.149T>C	XP_024303150.1:p.Val50Ala
XR_001746160.2:n.1450T>C
XR_001746162.2:n.1516T>C
XR_001746164.1:n.1233T>C
XR_001746166.2:n.1667T>C
NM_001077365.2:c.1280T>C MANE Select	NP_001070833.1:p.Val427Ala
NM_001077366.2:c.1118T>C	NP_001070834.1:p.Val373Ala
NM_001136113.2:c.1280T>C	NP_001129585.1:p.Val427Ala
NM_001136114.2:c.929T>C	NP_001129586.1:p.Val310Ala
NM_001353193.2:c.1346T>C	NP_001340122.2:p.Val449Ala
NM_001353194.2:c.1118T>C	NP_001340123.1:p.Val373Ala
NM_001353195.2:c.929T>C	NP_001340124.1:p.Val310Ala
NM_001353196.2:c.1190T>C	NP_001340125.1:p.Val397Ala
NM_001353197.2:c.1184T>C	NP_001340126.2:p.Val395Ala
NM_001353198.2:c.1184T>C	NP_001340127.2:p.Val395Ala
NM_001353199.2:c.995T>C	NP_001340128.2:p.Val332Ala
NM_001353200.2:c.824T>C	NP_001340129.1:p.Val275Ala
NM_001374689.1:c.1268T>C	NP_001361618.1:p.Val423Ala
NM_001374690.1:c.1280T>C	NP_001361619.1:p.Val427Ala
NM_001374691.1:c.929T>C	NP_001361620.1:p.Val310Ala
NM_001374692.1:c.929T>C	NP_001361621.1:p.Val310Ala
NM_001374693.1:c.929T>C	NP_001361622.1:p.Val310Ala
NM_001374695.1:c.890T>C	NP_001361624.1:p.Val297Ala
NM_007171.4:c.1346T>C	NP_009102.4:p.Val449Ala
NR_148391.2:n.1314T>C
NR_148392.2:n.1532T>C
NR_148393.2:n.1314T>C
NR_148394.2:n.1207T>C
NR_148395.2:n.1466T>C
NR_148396.2:n.1100T>C
NR_148397.2:n.1364T>C
NR_148398.2:n.1319T>C
NR_148399.2:n.1706T>C
NR_148400.2:n.1305T>C