Canonical Allele Identifier: CA375315538

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398492A>C (hg19) ; chr9:g.131523105A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523105A>C , CM000671.2:g.131523105A>C	GRCh38
NC_000009.11:g.134398492A>C , CM000671.1:g.134398492A>C	GRCh37
NC_000009.10:g.133388313A>C	NCBI36
NG_008896.1:g.25204A>C
NG_008896.2:g.25204A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.2015A>C	ENSP00000343034.7:p.Ter672Ser
ENST00000404875.7:n.2717A>C
ENST00000423007.6:c.2234A>C	ENSP00000404119.2:p.Ter745Ser
ENST00000677295.2:c.*2521A>C	ENSP00000504346.2:n.*2521A>C
ENST00000678264.2:c.*2360A>C	ENSP00000503157.2:n.*2360A>C
ENST00000682070.1:n.2487A>C
ENST00000682639.1:c.174A>C
ENST00000682813.1:n.2574A>C
ENST00000683231.1:c.174A>C
ENST00000683392.1:n.4769A>C
ENST00000683712.1:n.2582A>C
ENST00000683900.1:n.4077A>C
ENST00000684062.1:n.2843A>C
ENST00000684399.1:c.174A>C
ENST00000684579.1:n.4023A>C
ENST00000341012.12:c.2015A>C	ENSP00000343034.7:p.Ter672Ser
ENST00000372220.5:c.1046A>C	ENSP00000361294.5:p.Ter349Ser
ENST00000372228.9:c.2243A>C	ENSP00000361302.3:p.Ter748Ser
ENST00000402686.8:c.2177A>C MANE Select	ENSP00000385797.4:p.Ter726Ser
ENST00000676640.1:c.2177A>C	ENSP00000503281.1:p.Ter726Ser
ENST00000676803.1:c.1238A>C	ENSP00000503093.1:p.Ter413Ser
ENST00000676835.1:c.*1392A>C	ENSP00000502911.1:n.*1392A>C
ENST00000677029.1:c.1721A>C	ENSP00000502936.1:p.Ter574Ser
ENST00000677099.1:c.*1887A>C	ENSP00000504553.1:n.*1887A>C
ENST00000677216.1:c.1826A>C	ENSP00000503772.1:p.Ter609Ser
ENST00000677295.1:c.*1399A>C	ENSP00000504346.1:n.*1399A>C
ENST00000677444.1:c.2122A>C
ENST00000677586.1:n.1544A>C
ENST00000677626.1:c.1826A>C	ENSP00000503552.1:p.Ter609Ser
ENST00000677853.1:c.*1185A>C	ENSP00000503488.1:n.*1185A>C
ENST00000678264.1:c.*1554A>C	ENSP00000503157.1:n.*1554A>C
ENST00000678303.1:c.2087A>C	ENSP00000503696.1:p.Ter696Ser
ENST00000678366.1:c.*2426A>C	ENSP00000504353.1:n.*2426A>C
ENST00000678546.1:c.*2122A>C	ENSP00000503062.1:n.*2122A>C
ENST00000678548.1:c.*2316A>C	ENSP00000503934.1:n.*2316A>C
ENST00000678626.1:n.2013A>C
ENST00000678739.1:c.*2343A>C	ENSP00000503806.1:n.*2343A>C
ENST00000678833.1:c.*1929A>C	ENSP00000503893.1:n.*1929A>C
ENST00000679023.1:c.2015A>C	ENSP00000503718.1:p.Ter672Ser
ENST00000679076.1:c.1796A>C
ENST00000679111.1:c.*933A>C	ENSP00000504257.1:n.*933A>C
ENST00000679189.1:c.1826A>C	ENSP00000503356.1:p.Ter609Ser
ENST00000341012.11:c.2015A>C	ENSP00000343034.7:p.Ter672Ser
ENST00000372220.4:c.1040A>C	ENSP00000361294.4:p.Ter347Ser
ENST00000372228.7:c.2243A>C	ENSP00000361302.3:p.Ter748Ser
ENST00000402686.7:c.2177A>C	ENSP00000385797.3:p.Ter726Ser
ENST00000404875.6:c.1826A>C	ENSP00000384531.2:p.Ter609Ser
ENST00000423007.5:c.2177A>C	ENSP00000404119.1:p.Ter726Ser
ENST00000485278.5:n.2727A>C
NM_001077365.1:c.2177A>C	NP_001070833.1:p.Ter726Ser
NM_001077366.1:c.2015A>C	NP_001070834.1:p.Ter672Ser
NM_001136113.1:c.2177A>C	NP_001129585.1:p.Ter726Ser
NM_001136114.1:c.1826A>C	NP_001129586.1:p.Ter609Ser
NM_007171.3:c.2243A>C	NP_009102.3:p.Ter748Ser
XM_005272156.1:c.2243A>C	XP_005272213.1:p.Ter748Ser
XM_005272158.1:c.2081A>C	XP_005272215.1:p.Ter694Ser
XM_005272159.1:c.1892A>C	XP_005272216.1:p.Ter631Ser
XM_005272162.1:c.1046A>C	XP_005272219.1:p.Ter349Ser
XM_006716932.1:c.1892A>C	XP_006716995.1:p.Ter631Ser
XM_011518140.1:c.2096A>C	XP_011516442.1:p.Ter699Ser
XM_011518141.1:c.2030A>C	XP_011516443.1:p.Ter677Ser
XM_011518142.1:c.1934A>C	XP_011516444.1:p.Ter645Ser
XM_011518143.1:c.1928A>C	XP_011516445.1:p.Ter643Ser
XM_011518145.1:c.1787A>C	XP_011516447.1:p.Ter596Ser
XM_011518147.1:c.1115A>C	XP_011516449.1:p.Ter372Ser
XR_929703.1:n.2419A>C
NM_001353193.1:c.2243A>C	NP_001340122.1:p.Ter748Ser
NM_001353194.1:c.2015A>C	NP_001340123.1:p.Ter672Ser
NM_001353195.1:c.1826A>C	NP_001340124.1:p.Ter609Ser
NM_001353196.1:c.2087A>C	NP_001340125.1:p.Ter696Ser
NM_001353197.1:c.2081A>C	NP_001340126.1:p.Ter694Ser
NM_001353198.1:c.2081A>C	NP_001340127.1:p.Ter694Ser
NM_001353199.1:c.1892A>C	NP_001340128.1:p.Ter631Ser
NM_001353200.1:c.1721A>C	NP_001340129.1:p.Ter574Ser
NR_148391.1:n.2227A>C
NR_148392.1:n.2445A>C
NR_148393.1:n.2366A>C
NR_148394.1:n.2120A>C
NR_148395.1:n.2518A>C
NR_148396.1:n.2152A>C
NR_148397.1:n.2277A>C
NR_148398.1:n.2232A>C
NR_148399.1:n.2758A>C
NR_148400.1:n.2357A>C
XM_005272162.3:c.1046A>C	XP_005272219.1:p.Ter349Ser
XM_006716932.2:c.1892A>C	XP_006716995.1:p.Ter631Ser
XM_011518140.2:c.2096A>C	XP_011516442.1:p.Ter699Ser
XM_011518141.2:c.2030A>C	XP_011516443.1:p.Ter677Ser
XM_011518142.2:c.1934A>C	XP_011516444.1:p.Ter645Ser
XM_011518143.2:c.1928A>C	XP_011516445.1:p.Ter643Ser
XM_011518145.2:c.1787A>C	XP_011516447.1:p.Ter596Ser
XM_017014205.2:c.1046A>C	XP_016869694.1:p.Ter349Ser
XM_024447380.1:c.1046A>C	XP_024303148.1:p.Ter349Ser
XM_024447381.1:c.1352A>C	XP_024303149.1:p.Ter451Ser
XM_024447382.1:c.1046A>C	XP_024303150.1:p.Ter349Ser
XR_001746160.2:n.2347A>C
XR_001746162.2:n.2552A>C
XR_001746164.1:n.2269A>C
XR_001746166.2:n.2564A>C
NM_001077365.2:c.2177A>C MANE Select	NP_001070833.1:p.Ter726Ser
NM_001077366.2:c.2015A>C	NP_001070834.1:p.Ter672Ser
NM_001136113.2:c.2177A>C	NP_001129585.1:p.Ter726Ser
NM_001136114.2:c.1826A>C	NP_001129586.1:p.Ter609Ser
NM_001353193.2:c.2243A>C	NP_001340122.2:p.Ter748Ser
NM_001353194.2:c.2015A>C	NP_001340123.1:p.Ter672Ser
NM_001353195.2:c.1826A>C	NP_001340124.1:p.Ter609Ser
NM_001353196.2:c.2087A>C	NP_001340125.1:p.Ter696Ser
NM_001353197.2:c.2081A>C	NP_001340126.2:p.Ter694Ser
NM_001353198.2:c.2081A>C	NP_001340127.2:p.Ter694Ser
NM_001353199.2:c.1892A>C	NP_001340128.2:p.Ter631Ser
NM_001353200.2:c.1721A>C	NP_001340129.1:p.Ter574Ser
NM_001374689.1:c.2165A>C	NP_001361618.1:p.Ter722Ser
NM_001374690.1:c.1958A>C	NP_001361619.1:p.Ter653Ser
NM_001374691.1:c.1826A>C	NP_001361620.1:p.Ter609Ser
NM_001374692.1:c.1826A>C	NP_001361621.1:p.Ter609Ser
NM_001374693.1:c.1826A>C	NP_001361622.1:p.Ter609Ser
NM_001374695.1:c.1787A>C	NP_001361624.1:p.Ter596Ser
NM_007171.4:c.2243A>C	NP_009102.4:p.Ter748Ser
NR_148391.2:n.2211A>C
NR_148392.2:n.2429A>C
NR_148393.2:n.2350A>C
NR_148394.2:n.2104A>C
NR_148395.2:n.2502A>C
NR_148396.2:n.2136A>C
NR_148397.2:n.2261A>C
NR_148398.2:n.2216A>C
NR_148399.2:n.2742A>C
NR_148400.2:n.2341A>C