Canonical Allele Identifier: CA375315049

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522976-G-C
• MyVariant Identifiers: chr9:g.134398363G>C (hg19) ; chr9:g.131522976G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522976G>C , CM000671.2:g.131522976G>C	GRCh38
NC_000009.11:g.134398363G>C , CM000671.1:g.134398363G>C	GRCh37
NC_000009.10:g.133388184G>C	NCBI36
NG_008896.1:g.25075G>C
NG_008896.2:g.25075G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1886G>C	ENSP00000343034.7:p.Trp629Ser
ENST00000404875.7:n.2588G>C
ENST00000423007.6:c.2105G>C	ENSP00000404119.2:p.Trp702Ser
ENST00000677295.2:c.*2392G>C	ENSP00000504346.2:n.*2392G>C
ENST00000678264.2:c.*2231G>C	ENSP00000503157.2:n.*2231G>C
ENST00000682070.1:n.2358G>C
ENST00000682639.1:c.45G>C
ENST00000682813.1:n.2445G>C
ENST00000683231.1:c.45G>C
ENST00000683392.1:n.4640G>C
ENST00000683712.1:n.2453G>C
ENST00000683900.1:n.3948G>C
ENST00000684062.1:n.2714G>C
ENST00000684399.1:c.45G>C
ENST00000684579.1:n.3894G>C
ENST00000341012.12:c.1886G>C	ENSP00000343034.7:p.Trp629Ser
ENST00000372220.5:c.917G>C	ENSP00000361294.5:p.Trp306Ser
ENST00000372228.9:c.2114G>C	ENSP00000361302.3:p.Trp705Ser
ENST00000402686.8:c.2048G>C MANE Select	ENSP00000385797.4:p.Trp683Ser
ENST00000676640.1:c.2048G>C	ENSP00000503281.1:p.Trp683Ser
ENST00000676803.1:c.1109G>C	ENSP00000503093.1:p.Trp370Ser
ENST00000676835.1:c.*1263G>C	ENSP00000502911.1:n.*1263G>C
ENST00000677029.1:c.1592G>C	ENSP00000502936.1:p.Trp531Ser
ENST00000677099.1:c.*1758G>C	ENSP00000504553.1:n.*1758G>C
ENST00000677216.1:c.1697G>C	ENSP00000503772.1:p.Trp566Ser
ENST00000677221.1:n.1073G>C
ENST00000677295.1:c.*1270G>C	ENSP00000504346.1:n.*1270G>C
ENST00000677444.1:c.1993G>C
ENST00000677586.1:n.1415G>C
ENST00000677626.1:c.1697G>C	ENSP00000503552.1:p.Trp566Ser
ENST00000677853.1:c.*1056G>C	ENSP00000503488.1:n.*1056G>C
ENST00000678264.1:c.*1425G>C	ENSP00000503157.1:n.*1425G>C
ENST00000678303.1:c.1958G>C	ENSP00000503696.1:p.Trp653Ser
ENST00000678366.1:c.*2297G>C	ENSP00000504353.1:n.*2297G>C
ENST00000678546.1:c.*1993G>C	ENSP00000503062.1:n.*1993G>C
ENST00000678548.1:c.*2187G>C	ENSP00000503934.1:n.*2187G>C
ENST00000678626.1:n.1884G>C
ENST00000678739.1:c.*2214G>C	ENSP00000503806.1:n.*2214G>C
ENST00000678833.1:c.*1800G>C	ENSP00000503893.1:n.*1800G>C
ENST00000679023.1:c.1886G>C	ENSP00000503718.1:p.Trp629Ser
ENST00000679076.1:c.1667G>C
ENST00000679111.1:c.*804G>C	ENSP00000504257.1:n.*804G>C
ENST00000679189.1:c.1697G>C	ENSP00000503356.1:p.Trp566Ser
ENST00000341012.11:c.1886G>C	ENSP00000343034.7:p.Trp629Ser
ENST00000372220.4:c.911G>C	ENSP00000361294.4:p.Trp304Ser
ENST00000372228.7:c.2114G>C	ENSP00000361302.3:p.Trp705Ser
ENST00000402686.7:c.2048G>C	ENSP00000385797.3:p.Trp683Ser
ENST00000404875.6:c.1697G>C	ENSP00000384531.2:p.Trp566Ser
ENST00000423007.5:c.2048G>C	ENSP00000404119.1:p.Trp683Ser
ENST00000485278.5:n.2598G>C
NM_001077365.1:c.2048G>C	NP_001070833.1:p.Trp683Ser
NM_001077366.1:c.1886G>C	NP_001070834.1:p.Trp629Ser
NM_001136113.1:c.2048G>C	NP_001129585.1:p.Trp683Ser
NM_001136114.1:c.1697G>C	NP_001129586.1:p.Trp566Ser
NM_007171.3:c.2114G>C	NP_009102.3:p.Trp705Ser
XM_005272156.1:c.2114G>C	XP_005272213.1:p.Trp705Ser
XM_005272158.1:c.1952G>C	XP_005272215.1:p.Trp651Ser
XM_005272159.1:c.1763G>C	XP_005272216.1:p.Trp588Ser
XM_005272162.1:c.917G>C	XP_005272219.1:p.Trp306Ser
XM_006716932.1:c.1763G>C	XP_006716995.1:p.Trp588Ser
XM_011518140.1:c.1967G>C	XP_011516442.1:p.Trp656Ser
XM_011518141.1:c.1901G>C	XP_011516443.1:p.Trp634Ser
XM_011518142.1:c.1805G>C	XP_011516444.1:p.Trp602Ser
XM_011518143.1:c.1799G>C	XP_011516445.1:p.Trp600Ser
XM_011518145.1:c.1658G>C	XP_011516447.1:p.Trp553Ser
XM_011518147.1:c.986G>C	XP_011516449.1:p.Trp329Ser
XR_929703.1:n.2290G>C
NM_001353193.1:c.2114G>C	NP_001340122.1:p.Trp705Ser
NM_001353194.1:c.1886G>C	NP_001340123.1:p.Trp629Ser
NM_001353195.1:c.1697G>C	NP_001340124.1:p.Trp566Ser
NM_001353196.1:c.1958G>C	NP_001340125.1:p.Trp653Ser
NM_001353197.1:c.1952G>C	NP_001340126.1:p.Trp651Ser
NM_001353198.1:c.1952G>C	NP_001340127.1:p.Trp651Ser
NM_001353199.1:c.1763G>C	NP_001340128.1:p.Trp588Ser
NM_001353200.1:c.1592G>C	NP_001340129.1:p.Trp531Ser
NR_148391.1:n.2098G>C
NR_148392.1:n.2316G>C
NR_148393.1:n.2237G>C
NR_148394.1:n.1991G>C
NR_148395.1:n.2389G>C
NR_148396.1:n.2023G>C
NR_148397.1:n.2148G>C
NR_148398.1:n.2103G>C
NR_148399.1:n.2629G>C
NR_148400.1:n.2228G>C
XM_005272162.3:c.917G>C	XP_005272219.1:p.Trp306Ser
XM_006716932.2:c.1763G>C	XP_006716995.1:p.Trp588Ser
XM_011518140.2:c.1967G>C	XP_011516442.1:p.Trp656Ser
XM_011518141.2:c.1901G>C	XP_011516443.1:p.Trp634Ser
XM_011518142.2:c.1805G>C	XP_011516444.1:p.Trp602Ser
XM_011518143.2:c.1799G>C	XP_011516445.1:p.Trp600Ser
XM_011518145.2:c.1658G>C	XP_011516447.1:p.Trp553Ser
XM_017014205.2:c.917G>C	XP_016869694.1:p.Trp306Ser
XM_024447380.1:c.917G>C	XP_024303148.1:p.Trp306Ser
XM_024447381.1:c.1223G>C	XP_024303149.1:p.Trp408Ser
XM_024447382.1:c.917G>C	XP_024303150.1:p.Trp306Ser
XR_001746160.2:n.2218G>C
XR_001746162.2:n.2423G>C
XR_001746164.1:n.2140G>C
XR_001746166.2:n.2435G>C
NM_001077365.2:c.2048G>C MANE Select	NP_001070833.1:p.Trp683Ser
NM_001077366.2:c.1886G>C	NP_001070834.1:p.Trp629Ser
NM_001136113.2:c.2048G>C	NP_001129585.1:p.Trp683Ser
NM_001136114.2:c.1697G>C	NP_001129586.1:p.Trp566Ser
NM_001353193.2:c.2114G>C	NP_001340122.2:p.Trp705Ser
NM_001353194.2:c.1886G>C	NP_001340123.1:p.Trp629Ser
NM_001353195.2:c.1697G>C	NP_001340124.1:p.Trp566Ser
NM_001353196.2:c.1958G>C	NP_001340125.1:p.Trp653Ser
NM_001353197.2:c.1952G>C	NP_001340126.2:p.Trp651Ser
NM_001353198.2:c.1952G>C	NP_001340127.2:p.Trp651Ser
NM_001353199.2:c.1763G>C	NP_001340128.2:p.Trp588Ser
NM_001353200.2:c.1592G>C	NP_001340129.1:p.Trp531Ser
NM_001374689.1:c.2036G>C	NP_001361618.1:p.Trp679Ser
NM_001374690.1:c.1829G>C	NP_001361619.1:p.Trp610Ser
NM_001374691.1:c.1697G>C	NP_001361620.1:p.Trp566Ser
NM_001374692.1:c.1697G>C	NP_001361621.1:p.Trp566Ser
NM_001374693.1:c.1697G>C	NP_001361622.1:p.Trp566Ser
NM_001374695.1:c.1658G>C	NP_001361624.1:p.Trp553Ser
NM_007171.4:c.2114G>C	NP_009102.4:p.Trp705Ser
NR_148391.2:n.2082G>C
NR_148392.2:n.2300G>C
NR_148393.2:n.2221G>C
NR_148394.2:n.1975G>C
NR_148395.2:n.2373G>C
NR_148396.2:n.2007G>C
NR_148397.2:n.2132G>C
NR_148398.2:n.2087G>C
NR_148399.2:n.2613G>C
NR_148400.2:n.2212G>C