Canonical Allele Identifier: CA340818339

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227041G>C (hg19) ; chr1:g.75761356G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761356G>C , CM000663.2:g.75761356G>C	GRCh38
NC_000001.10:g.76227041G>C , CM000663.1:g.76227041G>C	GRCh37
NC_000001.9:g.75999629G>C	NCBI36
NG_007045.2:g.41999G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1180G>C MANE Select	ENSP00000359878.5:p.Ala394Pro
ENST00000473018.3:n.3304G>C
ENST00000532207.6:n.2191G>C
ENST00000541113.6:c.1084G>C	ENSP00000442324.2:p.Ala362Pro
ENST00000679509.1:n.2142G>C
ENST00000679530.1:c.*948G>C	ENSP00000506454.1:n.*948G>C
ENST00000679615.1:n.3195G>C
ENST00000679687.1:c.742G>C	ENSP00000506598.1:p.Ala248Pro
ENST00000679704.1:c.*946G>C	ENSP00000505117.1:n.*946G>C
ENST00000679709.1:c.*1143G>C	ENSP00000506623.1:n.*1143G>C
ENST00000679976.1:c.*764G>C	ENSP00000505565.1:n.*764G>C
ENST00000680166.1:n.4469G>C
ENST00000680315.1:n.1063G>C
ENST00000680517.1:c.*568G>C	ENSP00000505803.1:n.*568G>C
ENST00000680582.1:n.2142G>C
ENST00000680613.1:c.*673G>C	ENSP00000506114.1:n.*673G>C
ENST00000680662.1:c.*1094G>C	ENSP00000505080.1:n.*1094G>C
ENST00000680691.1:c.*843G>C	ENSP00000506487.1:n.*843G>C
ENST00000680694.1:c.*768G>C	ENSP00000505658.1:n.*768G>C
ENST00000680743.1:c.*969G>C	ENSP00000505073.1:n.*969G>C
ENST00000680749.1:c.*465G>C	ENSP00000505122.1:n.*465G>C
ENST00000680798.1:c.*655G>C	ENSP00000505670.1:n.*655G>C
ENST00000680805.1:c.1039G>C	ENSP00000505447.1:p.Ala347Pro
ENST00000680844.1:c.*964G>C	ENSP00000506541.1:n.*964G>C
ENST00000680948.1:c.*1047G>C	ENSP00000505441.1:n.*1047G>C
ENST00000680964.1:c.*273G>C	ENSP00000505961.1:n.*273G>C
ENST00000681037.1:c.*2664G>C	ENSP00000506025.1:n.*2664G>C
ENST00000681063.1:c.*449G>C	ENSP00000506616.1:n.*449G>C
ENST00000681209.1:c.*835G>C	ENSP00000505877.1:n.*835G>C
ENST00000681278.1:n.1882G>C
ENST00000681289.1:n.5175G>C
ENST00000681361.1:c.*847G>C	ENSP00000506679.1:n.*847G>C
ENST00000681430.1:c.*273G>C	ENSP00000506301.1:n.*273G>C
ENST00000681446.1:c.*884G>C	ENSP00000506244.1:n.*884G>C
ENST00000681450.1:c.*851G>C	ENSP00000505660.1:n.*851G>C
ENST00000681548.1:c.*766G>C	ENSP00000505275.1:n.*766G>C
ENST00000681616.1:c.*839G>C	ENSP00000505111.1:n.*839G>C
ENST00000681621.1:c.*764G>C	ENSP00000505770.1:n.*764G>C
ENST00000681680.1:n.3275G>C
ENST00000681720.1:c.*635G>C	ENSP00000505438.1:n.*635G>C
ENST00000681730.1:n.1402G>C
ENST00000681790.1:c.922G>C	ENSP00000505130.1:p.Ala308Pro
ENST00000681837.1:n.1796G>C
ENST00000681913.1:n.3426G>C
ENST00000681916.1:c.*948G>C	ENSP00000506477.1:n.*948G>C
ENST00000681930.1:n.3304G>C
ENST00000370834.9:c.1279G>C	ENSP00000359871.5:p.Ala427Pro
ENST00000370841.8:c.1180G>C	ENSP00000359878.4:p.Ala394Pro
ENST00000420607.6:c.1192G>C	ENSP00000409612.2:p.Ala398Pro
ENST00000481374.1:n.453G>C
ENST00000525808.5:c.*766G>C	ENSP00000434823.1:n.*766G>C
ENST00000526129.5:c.*964G>C	ENSP00000434092.1:n.*964G>C
ENST00000526196.5:c.*948G>C	ENSP00000431953.1:n.*948G>C
ENST00000528016.1:c.160-7821G>C	ENSP00000434284.1:n.160-7821G>C
ENST00000529059.5:n.1089G>C
ENST00000541113.5:c.1072G>C	ENSP00000442324.1:p.Ala358Pro
NM_000016.5:c.1180G>C	NP_000007.1:p.Ala394Pro
NM_001127328.2:c.1192G>C	NP_001120800.1:p.Ala398Pro
NM_001286042.1:c.1072G>C	NP_001272971.1:p.Ala358Pro
NM_001286043.1:c.1279G>C	NP_001272972.1:p.Ala427Pro
NM_001286044.1:c.613G>C	NP_001272973.1:p.Ala205Pro
NM_000016.6:c.1180G>C MANE Select	NP_000007.1:p.Ala394Pro
NM_001127328.3:c.1192G>C	NP_001120800.1:p.Ala398Pro
NM_001286042.2:c.1072G>C	NP_001272971.1:p.Ala358Pro
NM_001286043.2:c.1279G>C	NP_001272972.1:p.Ala427Pro
NM_001286044.2:c.613G>C	NP_001272973.1:p.Ala205Pro