Canonical Allele Identifier: CA375310117

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134390884T>C (hg19) ; chr9:g.131515497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515497T>C , CM000671.2:g.131515497T>C	GRCh38
NC_000009.11:g.134390884T>C , CM000671.1:g.134390884T>C	GRCh37
NC_000009.10:g.133380705T>C	NCBI36
NG_008896.1:g.17596T>C
NG_008896.2:g.17596T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1085T>C	ENSP00000343034.7:p.Met362Thr
ENST00000404875.7:n.1787T>C
ENST00000423007.6:c.1304T>C	ENSP00000404119.2:p.Met435Thr
ENST00000677295.2:c.*1591T>C	ENSP00000504346.2:n.*1591T>C
ENST00000678264.2:c.*1430T>C	ENSP00000503157.2:n.*1430T>C
ENST00000682070.1:n.1712T>C
ENST00000682539.1:c.72T>C
ENST00000682813.1:n.1512T>C
ENST00000683392.1:n.3994T>C
ENST00000683712.1:n.1652T>C
ENST00000683900.1:n.3147T>C
ENST00000684062.1:n.1913T>C
ENST00000684579.1:n.3093T>C
ENST00000341012.12:c.1085T>C	ENSP00000343034.7:p.Met362Thr
ENST00000372220.5:c.116T>C	ENSP00000361294.5:p.Met39Thr
ENST00000372228.9:c.1313T>C	ENSP00000361302.3:p.Met438Thr
ENST00000402686.8:c.1247T>C MANE Select	ENSP00000385797.4:p.Met416Thr
ENST00000676640.1:c.1247T>C	ENSP00000503281.1:p.Met416Thr
ENST00000676803.1:c.422T>C	ENSP00000503093.1:p.Met141Thr
ENST00000676835.1:c.*462T>C	ENSP00000502911.1:n.*462T>C
ENST00000677029.1:c.791T>C	ENSP00000502936.1:p.Met264Thr
ENST00000677099.1:c.*957T>C	ENSP00000504553.1:n.*957T>C
ENST00000677216.1:c.896T>C	ENSP00000503772.1:p.Met299Thr
ENST00000677295.1:c.*624T>C	ENSP00000504346.1:n.*624T>C
ENST00000677444.1:c.1053T>C
ENST00000677586.1:n.728T>C
ENST00000677626.1:c.896T>C	ENSP00000503552.1:p.Met299Thr
ENST00000677677.1:n.1207T>C
ENST00000677853.1:c.*255T>C	ENSP00000503488.1:n.*255T>C
ENST00000677944.1:c.509T>C
ENST00000678264.1:c.*624T>C	ENSP00000503157.1:n.*624T>C
ENST00000678303.1:c.1157T>C	ENSP00000503696.1:p.Met386Thr
ENST00000678366.1:c.*1496T>C	ENSP00000504353.1:n.*1496T>C
ENST00000678546.1:c.*1192T>C	ENSP00000503062.1:n.*1192T>C
ENST00000678548.1:c.*1319T>C	ENSP00000503934.1:n.*1319T>C
ENST00000678626.1:n.944T>C
ENST00000678733.1:c.328T>C
ENST00000678739.1:c.*1573T>C	ENSP00000503806.1:n.*1573T>C
ENST00000678795.1:n.334T>C
ENST00000678833.1:c.*694T>C	ENSP00000503893.1:n.*694T>C
ENST00000678942.1:c.427T>C	ENSP00000504690.1:n.427T>C
ENST00000679023.1:c.1085T>C	ENSP00000503718.1:p.Met362Thr
ENST00000679076.1:c.866T>C
ENST00000679111.1:c.1247T>C	ENSP00000504257.1:p.Met416Thr
ENST00000679189.1:c.896T>C	ENSP00000503356.1:p.Met299Thr
ENST00000341012.11:c.1085T>C	ENSP00000343034.7:p.Met362Thr
ENST00000372228.7:c.1313T>C	ENSP00000361302.3:p.Met438Thr
ENST00000402686.7:c.1247T>C	ENSP00000385797.3:p.Met416Thr
ENST00000404875.6:c.896T>C	ENSP00000384531.2:p.Met299Thr
ENST00000423007.5:c.1247T>C	ENSP00000404119.1:p.Met416Thr
ENST00000485278.5:n.1802T>C
NM_001077365.1:c.1247T>C	NP_001070833.1:p.Met416Thr
NM_001077366.1:c.1085T>C	NP_001070834.1:p.Met362Thr
NM_001136113.1:c.1247T>C	NP_001129585.1:p.Met416Thr
NM_001136114.1:c.896T>C	NP_001129586.1:p.Met299Thr
NM_007171.3:c.1313T>C	NP_009102.3:p.Met438Thr
XM_005272156.1:c.1313T>C	XP_005272213.1:p.Met438Thr
XM_005272158.1:c.1151T>C	XP_005272215.1:p.Met384Thr
XM_005272159.1:c.962T>C	XP_005272216.1:p.Met321Thr
XM_005272162.1:c.116T>C	XP_005272219.1:p.Met39Thr
XM_006716932.1:c.962T>C	XP_006716995.1:p.Met321Thr
XM_011518140.1:c.1166T>C	XP_011516442.1:p.Met389Thr
XM_011518141.1:c.1100T>C	XP_011516443.1:p.Met367Thr
XM_011518142.1:c.1004T>C	XP_011516444.1:p.Met335Thr
XM_011518143.1:c.998T>C	XP_011516445.1:p.Met333Thr
XM_011518144.1:c.1313T>C	XP_011516446.1:p.Met438Thr
XM_011518145.1:c.857T>C	XP_011516447.1:p.Met286Thr
XM_011518146.1:c.998T>C	XP_011516448.1:p.Met333Thr
XR_929703.1:n.1489T>C
NM_001353193.1:c.1313T>C	NP_001340122.1:p.Met438Thr
NM_001353194.1:c.1085T>C	NP_001340123.1:p.Met362Thr
NM_001353195.1:c.896T>C	NP_001340124.1:p.Met299Thr
NM_001353196.1:c.1157T>C	NP_001340125.1:p.Met386Thr
NM_001353197.1:c.1151T>C	NP_001340126.1:p.Met384Thr
NM_001353198.1:c.1151T>C	NP_001340127.1:p.Met384Thr
NM_001353199.1:c.962T>C	NP_001340128.1:p.Met321Thr
NM_001353200.1:c.791T>C	NP_001340129.1:p.Met264Thr
NR_148391.1:n.1297T>C
NR_148392.1:n.1515T>C
NR_148393.1:n.1297T>C
NR_148394.1:n.1190T>C
NR_148395.1:n.1449T>C
NR_148396.1:n.1083T>C
NR_148397.1:n.1347T>C
NR_148398.1:n.1302T>C
NR_148399.1:n.1689T>C
NR_148400.1:n.1288T>C
XM_005272162.3:c.116T>C	XP_005272219.1:p.Met39Thr
XM_006716932.2:c.962T>C	XP_006716995.1:p.Met321Thr
XM_011518140.2:c.1166T>C	XP_011516442.1:p.Met389Thr
XM_011518141.2:c.1100T>C	XP_011516443.1:p.Met367Thr
XM_011518142.2:c.1004T>C	XP_011516444.1:p.Met335Thr
XM_011518143.2:c.998T>C	XP_011516445.1:p.Met333Thr
XM_011518145.2:c.857T>C	XP_011516447.1:p.Met286Thr
XM_017014205.2:c.116T>C	XP_016869694.1:p.Met39Thr
XM_024447380.1:c.116T>C	XP_024303148.1:p.Met39Thr
XM_024447381.1:c.422T>C	XP_024303149.1:p.Met141Thr
XM_024447382.1:c.116T>C	XP_024303150.1:p.Met39Thr
XR_001746160.2:n.1417T>C
XR_001746162.2:n.1483T>C
XR_001746164.1:n.1200T>C
XR_001746166.2:n.1634T>C
NM_001077365.2:c.1247T>C MANE Select	NP_001070833.1:p.Met416Thr
NM_001077366.2:c.1085T>C	NP_001070834.1:p.Met362Thr
NM_001136113.2:c.1247T>C	NP_001129585.1:p.Met416Thr
NM_001136114.2:c.896T>C	NP_001129586.1:p.Met299Thr
NM_001353193.2:c.1313T>C	NP_001340122.2:p.Met438Thr
NM_001353194.2:c.1085T>C	NP_001340123.1:p.Met362Thr
NM_001353195.2:c.896T>C	NP_001340124.1:p.Met299Thr
NM_001353196.2:c.1157T>C	NP_001340125.1:p.Met386Thr
NM_001353197.2:c.1151T>C	NP_001340126.2:p.Met384Thr
NM_001353198.2:c.1151T>C	NP_001340127.2:p.Met384Thr
NM_001353199.2:c.962T>C	NP_001340128.2:p.Met321Thr
NM_001353200.2:c.791T>C	NP_001340129.1:p.Met264Thr
NM_001374689.1:c.1235T>C	NP_001361618.1:p.Met412Thr
NM_001374690.1:c.1247T>C	NP_001361619.1:p.Met416Thr
NM_001374691.1:c.896T>C	NP_001361620.1:p.Met299Thr
NM_001374692.1:c.896T>C	NP_001361621.1:p.Met299Thr
NM_001374693.1:c.896T>C	NP_001361622.1:p.Met299Thr
NM_001374695.1:c.857T>C	NP_001361624.1:p.Met286Thr
NM_007171.4:c.1313T>C	NP_009102.4:p.Met438Thr
NR_148391.2:n.1281T>C
NR_148392.2:n.1499T>C
NR_148393.2:n.1281T>C
NR_148394.2:n.1174T>C
NR_148395.2:n.1433T>C
NR_148396.2:n.1067T>C
NR_148397.2:n.1331T>C
NR_148398.2:n.1286T>C
NR_148399.2:n.1673T>C
NR_148400.2:n.1272T>C