Canonical Allele Identifier: CA375315490

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398479A>C (hg19) ; chr9:g.131523092A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523092A>C , CM000671.2:g.131523092A>C	GRCh38
NC_000009.11:g.134398479A>C , CM000671.1:g.134398479A>C	GRCh37
NC_000009.10:g.133388300A>C	NCBI36
NG_008896.1:g.25191A>C
NG_008896.2:g.25191A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.2002A>C	ENSP00000343034.7:p.Ile668Leu
ENST00000404875.7:n.2704A>C
ENST00000423007.6:c.2221A>C	ENSP00000404119.2:p.Ile741Leu
ENST00000677295.2:c.*2508A>C	ENSP00000504346.2:n.*2508A>C
ENST00000678264.2:c.*2347A>C	ENSP00000503157.2:n.*2347A>C
ENST00000682070.1:n.2474A>C
ENST00000682639.1:c.161A>C
ENST00000682813.1:n.2561A>C
ENST00000683231.1:c.161A>C
ENST00000683392.1:n.4756A>C
ENST00000683712.1:n.2569A>C
ENST00000683900.1:n.4064A>C
ENST00000684062.1:n.2830A>C
ENST00000684399.1:c.161A>C
ENST00000684579.1:n.4010A>C
ENST00000341012.12:c.2002A>C	ENSP00000343034.7:p.Ile668Leu
ENST00000372220.5:c.1033A>C	ENSP00000361294.5:p.Ile345Leu
ENST00000372228.9:c.2230A>C	ENSP00000361302.3:p.Ile744Leu
ENST00000402686.8:c.2164A>C MANE Select	ENSP00000385797.4:p.Ile722Leu
ENST00000676640.1:c.2164A>C	ENSP00000503281.1:p.Ile722Leu
ENST00000676803.1:c.1225A>C	ENSP00000503093.1:p.Ile409Leu
ENST00000676835.1:c.*1379A>C	ENSP00000502911.1:n.*1379A>C
ENST00000677029.1:c.1708A>C	ENSP00000502936.1:p.Ile570Leu
ENST00000677099.1:c.*1874A>C	ENSP00000504553.1:n.*1874A>C
ENST00000677216.1:c.1813A>C	ENSP00000503772.1:p.Ile605Leu
ENST00000677295.1:c.*1386A>C	ENSP00000504346.1:n.*1386A>C
ENST00000677444.1:c.2109A>C
ENST00000677586.1:n.1531A>C
ENST00000677626.1:c.1813A>C	ENSP00000503552.1:p.Ile605Leu
ENST00000677853.1:c.*1172A>C	ENSP00000503488.1:n.*1172A>C
ENST00000678264.1:c.*1541A>C	ENSP00000503157.1:n.*1541A>C
ENST00000678303.1:c.2074A>C	ENSP00000503696.1:p.Ile692Leu
ENST00000678366.1:c.*2413A>C	ENSP00000504353.1:n.*2413A>C
ENST00000678546.1:c.*2109A>C	ENSP00000503062.1:n.*2109A>C
ENST00000678548.1:c.*2303A>C	ENSP00000503934.1:n.*2303A>C
ENST00000678626.1:n.2000A>C
ENST00000678739.1:c.*2330A>C	ENSP00000503806.1:n.*2330A>C
ENST00000678833.1:c.*1916A>C	ENSP00000503893.1:n.*1916A>C
ENST00000679023.1:c.2002A>C	ENSP00000503718.1:p.Ile668Leu
ENST00000679076.1:c.1783A>C
ENST00000679111.1:c.*920A>C	ENSP00000504257.1:n.*920A>C
ENST00000679189.1:c.1813A>C	ENSP00000503356.1:p.Ile605Leu
ENST00000341012.11:c.2002A>C	ENSP00000343034.7:p.Ile668Leu
ENST00000372220.4:c.1027A>C	ENSP00000361294.4:p.Ile343Leu
ENST00000372228.7:c.2230A>C	ENSP00000361302.3:p.Ile744Leu
ENST00000402686.7:c.2164A>C	ENSP00000385797.3:p.Ile722Leu
ENST00000404875.6:c.1813A>C	ENSP00000384531.2:p.Ile605Leu
ENST00000423007.5:c.2164A>C	ENSP00000404119.1:p.Ile722Leu
ENST00000485278.5:n.2714A>C
NM_001077365.1:c.2164A>C	NP_001070833.1:p.Ile722Leu
NM_001077366.1:c.2002A>C	NP_001070834.1:p.Ile668Leu
NM_001136113.1:c.2164A>C	NP_001129585.1:p.Ile722Leu
NM_001136114.1:c.1813A>C	NP_001129586.1:p.Ile605Leu
NM_007171.3:c.2230A>C	NP_009102.3:p.Ile744Leu
XM_005272156.1:c.2230A>C	XP_005272213.1:p.Ile744Leu
XM_005272158.1:c.2068A>C	XP_005272215.1:p.Ile690Leu
XM_005272159.1:c.1879A>C	XP_005272216.1:p.Ile627Leu
XM_005272162.1:c.1033A>C	XP_005272219.1:p.Ile345Leu
XM_006716932.1:c.1879A>C	XP_006716995.1:p.Ile627Leu
XM_011518140.1:c.2083A>C	XP_011516442.1:p.Ile695Leu
XM_011518141.1:c.2017A>C	XP_011516443.1:p.Ile673Leu
XM_011518142.1:c.1921A>C	XP_011516444.1:p.Ile641Leu
XM_011518143.1:c.1915A>C	XP_011516445.1:p.Ile639Leu
XM_011518145.1:c.1774A>C	XP_011516447.1:p.Ile592Leu
XM_011518147.1:c.1102A>C	XP_011516449.1:p.Ile368Leu
XR_929703.1:n.2406A>C
NM_001353193.1:c.2230A>C	NP_001340122.1:p.Ile744Leu
NM_001353194.1:c.2002A>C	NP_001340123.1:p.Ile668Leu
NM_001353195.1:c.1813A>C	NP_001340124.1:p.Ile605Leu
NM_001353196.1:c.2074A>C	NP_001340125.1:p.Ile692Leu
NM_001353197.1:c.2068A>C	NP_001340126.1:p.Ile690Leu
NM_001353198.1:c.2068A>C	NP_001340127.1:p.Ile690Leu
NM_001353199.1:c.1879A>C	NP_001340128.1:p.Ile627Leu
NM_001353200.1:c.1708A>C	NP_001340129.1:p.Ile570Leu
NR_148391.1:n.2214A>C
NR_148392.1:n.2432A>C
NR_148393.1:n.2353A>C
NR_148394.1:n.2107A>C
NR_148395.1:n.2505A>C
NR_148396.1:n.2139A>C
NR_148397.1:n.2264A>C
NR_148398.1:n.2219A>C
NR_148399.1:n.2745A>C
NR_148400.1:n.2344A>C
XM_005272162.3:c.1033A>C	XP_005272219.1:p.Ile345Leu
XM_006716932.2:c.1879A>C	XP_006716995.1:p.Ile627Leu
XM_011518140.2:c.2083A>C	XP_011516442.1:p.Ile695Leu
XM_011518141.2:c.2017A>C	XP_011516443.1:p.Ile673Leu
XM_011518142.2:c.1921A>C	XP_011516444.1:p.Ile641Leu
XM_011518143.2:c.1915A>C	XP_011516445.1:p.Ile639Leu
XM_011518145.2:c.1774A>C	XP_011516447.1:p.Ile592Leu
XM_017014205.2:c.1033A>C	XP_016869694.1:p.Ile345Leu
XM_024447380.1:c.1033A>C	XP_024303148.1:p.Ile345Leu
XM_024447381.1:c.1339A>C	XP_024303149.1:p.Ile447Leu
XM_024447382.1:c.1033A>C	XP_024303150.1:p.Ile345Leu
XR_001746160.2:n.2334A>C
XR_001746162.2:n.2539A>C
XR_001746164.1:n.2256A>C
XR_001746166.2:n.2551A>C
NM_001077365.2:c.2164A>C MANE Select	NP_001070833.1:p.Ile722Leu
NM_001077366.2:c.2002A>C	NP_001070834.1:p.Ile668Leu
NM_001136113.2:c.2164A>C	NP_001129585.1:p.Ile722Leu
NM_001136114.2:c.1813A>C	NP_001129586.1:p.Ile605Leu
NM_001353193.2:c.2230A>C	NP_001340122.2:p.Ile744Leu
NM_001353194.2:c.2002A>C	NP_001340123.1:p.Ile668Leu
NM_001353195.2:c.1813A>C	NP_001340124.1:p.Ile605Leu
NM_001353196.2:c.2074A>C	NP_001340125.1:p.Ile692Leu
NM_001353197.2:c.2068A>C	NP_001340126.2:p.Ile690Leu
NM_001353198.2:c.2068A>C	NP_001340127.2:p.Ile690Leu
NM_001353199.2:c.1879A>C	NP_001340128.2:p.Ile627Leu
NM_001353200.2:c.1708A>C	NP_001340129.1:p.Ile570Leu
NM_001374689.1:c.2152A>C	NP_001361618.1:p.Ile718Leu
NM_001374690.1:c.1945A>C	NP_001361619.1:p.Ile649Leu
NM_001374691.1:c.1813A>C	NP_001361620.1:p.Ile605Leu
NM_001374692.1:c.1813A>C	NP_001361621.1:p.Ile605Leu
NM_001374693.1:c.1813A>C	NP_001361622.1:p.Ile605Leu
NM_001374695.1:c.1774A>C	NP_001361624.1:p.Ile592Leu
NM_007171.4:c.2230A>C	NP_009102.4:p.Ile744Leu
NR_148391.2:n.2198A>C
NR_148392.2:n.2416A>C
NR_148393.2:n.2337A>C
NR_148394.2:n.2091A>C
NR_148395.2:n.2489A>C
NR_148396.2:n.2123A>C
NR_148397.2:n.2248A>C
NR_148398.2:n.2203A>C
NR_148399.2:n.2729A>C
NR_148400.2:n.2328A>C