Canonical Allele Identifier: CA375314367

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397505T>C (hg19) ; chr9:g.131522118T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522118T>C , CM000671.2:g.131522118T>C	GRCh38
NC_000009.11:g.134397505T>C , CM000671.1:g.134397505T>C	GRCh37
NC_000009.10:g.133387326T>C	NCBI36
NG_008896.1:g.24217T>C
NG_008896.2:g.24217T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1735T>C	ENSP00000343034.7:p.Phe579Leu
ENST00000404875.7:n.2437T>C
ENST00000423007.6:c.1954T>C	ENSP00000404119.2:p.Phe652Leu
ENST00000677295.2:c.*2241T>C	ENSP00000504346.2:n.*2241T>C
ENST00000678264.2:c.*2080T>C	ENSP00000503157.2:n.*2080T>C
ENST00000682070.1:n.2291-84T>C
ENST00000682813.1:n.2301T>C
ENST00000683392.1:n.4573-84T>C
ENST00000683712.1:n.2302T>C
ENST00000683900.1:n.3797T>C
ENST00000684062.1:n.2563T>C
ENST00000684579.1:n.3743T>C
ENST00000684679.1:n.1124T>C
ENST00000341012.12:c.1735T>C	ENSP00000343034.7:p.Phe579Leu
ENST00000372220.5:c.766T>C	ENSP00000361294.5:p.Phe256Leu
ENST00000372228.9:c.1963T>C	ENSP00000361302.3:p.Phe655Leu
ENST00000402686.8:c.1897T>C MANE Select	ENSP00000385797.4:p.Phe633Leu
ENST00000676640.1:c.1897T>C	ENSP00000503281.1:p.Phe633Leu
ENST00000676803.1:c.958T>C	ENSP00000503093.1:p.Phe320Leu
ENST00000676835.1:c.*1112T>C	ENSP00000502911.1:n.*1112T>C
ENST00000677029.1:c.1441T>C	ENSP00000502936.1:p.Phe481Leu
ENST00000677099.1:c.*1607T>C	ENSP00000504553.1:n.*1607T>C
ENST00000677216.1:c.1546T>C	ENSP00000503772.1:p.Phe516Leu
ENST00000677221.1:n.922T>C
ENST00000677295.1:c.*1203-84T>C	ENSP00000504346.1:n.*1203-84T>C
ENST00000677444.1:c.1842T>C
ENST00000677586.1:n.1264T>C
ENST00000677626.1:c.1546T>C	ENSP00000503552.1:p.Phe516Leu
ENST00000677853.1:c.*905T>C	ENSP00000503488.1:n.*905T>C
ENST00000678202.1:n.1056T>C
ENST00000678264.1:c.*1274T>C	ENSP00000503157.1:n.*1274T>C
ENST00000678303.1:c.1807T>C	ENSP00000503696.1:p.Phe603Leu
ENST00000678366.1:c.*2146T>C	ENSP00000504353.1:n.*2146T>C
ENST00000678546.1:c.*1842T>C	ENSP00000503062.1:n.*1842T>C
ENST00000678548.1:c.*2036T>C	ENSP00000503934.1:n.*2036T>C
ENST00000678626.1:n.1733T>C
ENST00000678739.1:c.*2147-84T>C	ENSP00000503806.1:n.*2147-84T>C
ENST00000678833.1:c.*1649T>C	ENSP00000503893.1:n.*1649T>C
ENST00000679023.1:c.1735T>C	ENSP00000503718.1:p.Phe579Leu
ENST00000679076.1:c.1516T>C
ENST00000679111.1:c.*653T>C	ENSP00000504257.1:n.*653T>C
ENST00000679189.1:c.1546T>C	ENSP00000503356.1:p.Phe516Leu
ENST00000341012.11:c.1735T>C	ENSP00000343034.7:p.Phe579Leu
ENST00000372220.4:c.760T>C	ENSP00000361294.4:p.Phe254Leu
ENST00000372228.7:c.1963T>C	ENSP00000361302.3:p.Phe655Leu
ENST00000402686.7:c.1897T>C	ENSP00000385797.3:p.Phe633Leu
ENST00000404875.6:c.1546T>C	ENSP00000384531.2:p.Phe516Leu
ENST00000423007.5:c.1897T>C	ENSP00000404119.1:p.Phe633Leu
ENST00000485278.5:n.2447T>C
ENST00000494883.1:n.440T>C
NM_001077365.1:c.1897T>C	NP_001070833.1:p.Phe633Leu
NM_001077366.1:c.1735T>C	NP_001070834.1:p.Phe579Leu
NM_001136113.1:c.1897T>C	NP_001129585.1:p.Phe633Leu
NM_001136114.1:c.1546T>C	NP_001129586.1:p.Phe516Leu
NM_007171.3:c.1963T>C	NP_009102.3:p.Phe655Leu
XM_005272156.1:c.1963T>C	XP_005272213.1:p.Phe655Leu
XM_005272158.1:c.1801T>C	XP_005272215.1:p.Phe601Leu
XM_005272159.1:c.1612T>C	XP_005272216.1:p.Phe538Leu
XM_005272162.1:c.766T>C	XP_005272219.1:p.Phe256Leu
XM_006716932.1:c.1612T>C	XP_006716995.1:p.Phe538Leu
XM_011518140.1:c.1816T>C	XP_011516442.1:p.Phe606Leu
XM_011518141.1:c.1750T>C	XP_011516443.1:p.Phe584Leu
XM_011518142.1:c.1654T>C	XP_011516444.1:p.Phe552Leu
XM_011518143.1:c.1648T>C	XP_011516445.1:p.Phe550Leu
XM_011518145.1:c.1507T>C	XP_011516447.1:p.Phe503Leu
XM_011518147.1:c.835T>C	XP_011516449.1:p.Phe279Leu
XR_929703.1:n.2139T>C
NM_001353193.1:c.1963T>C	NP_001340122.1:p.Phe655Leu
NM_001353194.1:c.1735T>C	NP_001340123.1:p.Phe579Leu
NM_001353195.1:c.1546T>C	NP_001340124.1:p.Phe516Leu
NM_001353196.1:c.1807T>C	NP_001340125.1:p.Phe603Leu
NM_001353197.1:c.1801T>C	NP_001340126.1:p.Phe601Leu
NM_001353198.1:c.1801T>C	NP_001340127.1:p.Phe601Leu
NM_001353199.1:c.1612T>C	NP_001340128.1:p.Phe538Leu
NM_001353200.1:c.1441T>C	NP_001340129.1:p.Phe481Leu
NR_148391.1:n.1947T>C
NR_148392.1:n.2165T>C
NR_148393.1:n.2086T>C
NR_148394.1:n.1840T>C
NR_148395.1:n.2238T>C
NR_148396.1:n.1872T>C
NR_148397.1:n.1997T>C
NR_148398.1:n.1952T>C
NR_148399.1:n.2478T>C
NR_148400.1:n.2077T>C
XM_005272162.3:c.766T>C	XP_005272219.1:p.Phe256Leu
XM_006716932.2:c.1612T>C	XP_006716995.1:p.Phe538Leu
XM_011518140.2:c.1816T>C	XP_011516442.1:p.Phe606Leu
XM_011518141.2:c.1750T>C	XP_011516443.1:p.Phe584Leu
XM_011518142.2:c.1654T>C	XP_011516444.1:p.Phe552Leu
XM_011518143.2:c.1648T>C	XP_011516445.1:p.Phe550Leu
XM_011518145.2:c.1507T>C	XP_011516447.1:p.Phe503Leu
XM_017014205.2:c.766T>C	XP_016869694.1:p.Phe256Leu
XM_024447380.1:c.766T>C	XP_024303148.1:p.Phe256Leu
XM_024447381.1:c.1072T>C	XP_024303149.1:p.Phe358Leu
XM_024447382.1:c.766T>C	XP_024303150.1:p.Phe256Leu
XR_001746160.2:n.2067T>C
XR_001746162.2:n.2272T>C
XR_001746164.1:n.1989T>C
XR_001746166.2:n.2284T>C
NM_001077365.2:c.1897T>C MANE Select	NP_001070833.1:p.Phe633Leu
NM_001077366.2:c.1735T>C	NP_001070834.1:p.Phe579Leu
NM_001136113.2:c.1897T>C	NP_001129585.1:p.Phe633Leu
NM_001136114.2:c.1546T>C	NP_001129586.1:p.Phe516Leu
NM_001353193.2:c.1963T>C	NP_001340122.2:p.Phe655Leu
NM_001353194.2:c.1735T>C	NP_001340123.1:p.Phe579Leu
NM_001353195.2:c.1546T>C	NP_001340124.1:p.Phe516Leu
NM_001353196.2:c.1807T>C	NP_001340125.1:p.Phe603Leu
NM_001353197.2:c.1801T>C	NP_001340126.2:p.Phe601Leu
NM_001353198.2:c.1801T>C	NP_001340127.2:p.Phe601Leu
NM_001353199.2:c.1612T>C	NP_001340128.2:p.Phe538Leu
NM_001353200.2:c.1441T>C	NP_001340129.1:p.Phe481Leu
NM_001374689.1:c.1885T>C	NP_001361618.1:p.Phe629Leu
NM_001374690.1:c.1678T>C	NP_001361619.1:p.Phe560Leu
NM_001374691.1:c.1546T>C	NP_001361620.1:p.Phe516Leu
NM_001374692.1:c.1546T>C	NP_001361621.1:p.Phe516Leu
NM_001374693.1:c.1546T>C	NP_001361622.1:p.Phe516Leu
NM_001374695.1:c.1507T>C	NP_001361624.1:p.Phe503Leu
NM_007171.4:c.1963T>C	NP_009102.4:p.Phe655Leu
NR_148391.2:n.1931T>C
NR_148392.2:n.2149T>C
NR_148393.2:n.2070T>C
NR_148394.2:n.1824T>C
NR_148395.2:n.2222T>C
NR_148396.2:n.1856T>C
NR_148397.2:n.1981T>C
NR_148398.2:n.1936T>C
NR_148399.2:n.2462T>C
NR_148400.2:n.2061T>C