Canonical Allele Identifier: CA418707619

Gene: ACADM

Linked Data

• dbSNP Id: rs1648834924
• gnomAD v4: 1-75761235-T-C
• MyVariant Identifiers: chr1:g.76226920T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761235T>C , CM000663.2:g.75761235T>C	GRCh38
NC_000001.10:g.76226920T>C , CM000663.1:g.76226920T>C	GRCh37
NC_000001.9:g.75999508T>C	NCBI36
NG_007045.2:g.41878T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1059T>C MANE Select	ENSP00000359878.5:p.Tyr353=
ENST00000473018.3:n.3183T>C
ENST00000532207.6:n.2070T>C
ENST00000541113.6:c.963T>C	ENSP00000442324.2:p.Tyr321=
ENST00000679509.1:n.2021T>C
ENST00000679530.1:c.*827T>C	ENSP00000506454.1:n.*827T>C
ENST00000679615.1:n.3074T>C
ENST00000679687.1:c.621T>C	ENSP00000506598.1:p.Tyr207=
ENST00000679704.1:c.*825T>C	ENSP00000505117.1:n.*825T>C
ENST00000679709.1:c.*1022T>C	ENSP00000506623.1:n.*1022T>C
ENST00000679976.1:c.*643T>C	ENSP00000505565.1:n.*643T>C
ENST00000680166.1:n.4348T>C
ENST00000680315.1:n.942T>C
ENST00000680517.1:c.*447T>C	ENSP00000505803.1:n.*447T>C
ENST00000680582.1:n.2021T>C
ENST00000680613.1:c.*552T>C	ENSP00000506114.1:n.*552T>C
ENST00000680662.1:c.*973T>C	ENSP00000505080.1:n.*973T>C
ENST00000680691.1:c.*722T>C	ENSP00000506487.1:n.*722T>C
ENST00000680694.1:c.*647T>C	ENSP00000505658.1:n.*647T>C
ENST00000680743.1:c.*848T>C	ENSP00000505073.1:n.*848T>C
ENST00000680749.1:c.*344T>C	ENSP00000505122.1:n.*344T>C
ENST00000680798.1:c.*534T>C	ENSP00000505670.1:n.*534T>C
ENST00000680805.1:c.918T>C	ENSP00000505447.1:p.Tyr306=
ENST00000680844.1:c.*843T>C	ENSP00000506541.1:n.*843T>C
ENST00000680948.1:c.*926T>C	ENSP00000505441.1:n.*926T>C
ENST00000680964.1:c.*152T>C	ENSP00000505961.1:n.*152T>C
ENST00000681037.1:c.*2543T>C	ENSP00000506025.1:n.*2543T>C
ENST00000681063.1:c.*328T>C	ENSP00000506616.1:n.*328T>C
ENST00000681209.1:c.*714T>C	ENSP00000505877.1:n.*714T>C
ENST00000681278.1:n.1761T>C
ENST00000681289.1:n.5054T>C
ENST00000681361.1:c.*726T>C	ENSP00000506679.1:n.*726T>C
ENST00000681430.1:c.*152T>C	ENSP00000506301.1:n.*152T>C
ENST00000681446.1:c.*763T>C	ENSP00000506244.1:n.*763T>C
ENST00000681450.1:c.*730T>C	ENSP00000505660.1:n.*730T>C
ENST00000681548.1:c.*645T>C	ENSP00000505275.1:n.*645T>C
ENST00000681616.1:c.*718T>C	ENSP00000505111.1:n.*718T>C
ENST00000681621.1:c.*643T>C	ENSP00000505770.1:n.*643T>C
ENST00000681680.1:n.3154T>C
ENST00000681720.1:c.*514T>C	ENSP00000505438.1:n.*514T>C
ENST00000681730.1:n.1281T>C
ENST00000681790.1:c.801T>C	ENSP00000505130.1:p.Tyr267=
ENST00000681837.1:n.1675T>C
ENST00000681913.1:n.3305T>C
ENST00000681916.1:c.*827T>C	ENSP00000506477.1:n.*827T>C
ENST00000681930.1:n.3183T>C
ENST00000370834.9:c.1158T>C	ENSP00000359871.5:p.Tyr386=
ENST00000370841.8:c.1059T>C	ENSP00000359878.4:p.Tyr353=
ENST00000420607.6:c.1071T>C	ENSP00000409612.2:p.Tyr357=
ENST00000481374.1:n.332T>C
ENST00000525808.5:c.*645T>C	ENSP00000434823.1:n.*645T>C
ENST00000526129.5:c.*843T>C	ENSP00000434092.1:n.*843T>C
ENST00000526196.5:c.*827T>C	ENSP00000431953.1:n.*827T>C
ENST00000528016.1:c.160-7942T>C	ENSP00000434284.1:n.160-7942T>C
ENST00000529059.5:n.968T>C
ENST00000534334.5:c.*800T>C	ENSP00000435584.1:n.*800T>C
ENST00000541113.5:c.951T>C	ENSP00000442324.1:p.Tyr317=
NM_000016.5:c.1059T>C	NP_000007.1:p.Tyr353=
NM_001127328.2:c.1071T>C	NP_001120800.1:p.Tyr357=
NM_001286042.1:c.951T>C	NP_001272971.1:p.Tyr317=
NM_001286043.1:c.1158T>C	NP_001272972.1:p.Tyr386=
NM_001286044.1:c.492T>C	NP_001272973.1:p.Tyr164=
NM_000016.6:c.1059T>C MANE Select	NP_000007.1:p.Tyr353=
NM_001127328.3:c.1071T>C	NP_001120800.1:p.Tyr357=
NM_001286042.2:c.951T>C	NP_001272971.1:p.Tyr317=
NM_001286043.2:c.1158T>C	NP_001272972.1:p.Tyr386=
NM_001286044.2:c.492T>C	NP_001272973.1:p.Tyr164=