Canonical Allele Identifier: CA340816690

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215189G>C (hg19) ; chr1:g.75749504G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749504G>C , CM000663.2:g.75749504G>C	GRCh38
NC_000001.10:g.76215189G>C , CM000663.1:g.76215189G>C	GRCh37
NC_000001.9:g.75987777G>C	NCBI36
NG_007045.2:g.30147G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.794G>C MANE Select	ENSP00000359878.5:p.Gly265Ala
ENST00000473018.3:n.2918G>C
ENST00000532207.6:n.1683G>C
ENST00000541113.6:c.794G>C	ENSP00000442324.2:p.Gly265Ala
ENST00000679509.1:n.1756G>C
ENST00000679530.1:c.*562G>C	ENSP00000506454.1:n.*562G>C
ENST00000679615.1:n.2809G>C
ENST00000679687.1:c.356G>C	ENSP00000506598.1:p.Gly119Ala
ENST00000679704.1:c.*560G>C	ENSP00000505117.1:n.*560G>C
ENST00000679709.1:c.*757G>C	ENSP00000506623.1:n.*757G>C
ENST00000679976.1:c.*378G>C	ENSP00000505565.1:n.*378G>C
ENST00000680166.1:n.4083G>C
ENST00000680517.1:c.*182G>C	ENSP00000505803.1:n.*182G>C
ENST00000680582.1:n.1756G>C
ENST00000680613.1:c.*165G>C	ENSP00000506114.1:n.*165G>C
ENST00000680662.1:c.*708G>C	ENSP00000505080.1:n.*708G>C
ENST00000680691.1:c.*457G>C	ENSP00000506487.1:n.*457G>C
ENST00000680694.1:c.*382G>C	ENSP00000505658.1:n.*382G>C
ENST00000680743.1:c.*461G>C	ENSP00000505073.1:n.*461G>C
ENST00000680749.1:c.*79G>C	ENSP00000505122.1:n.*79G>C
ENST00000680798.1:c.*269G>C	ENSP00000505670.1:n.*269G>C
ENST00000680805.1:c.709-947G>C	ENSP00000505447.1:n.709-947G>C
ENST00000680844.1:c.*578G>C	ENSP00000506541.1:n.*578G>C
ENST00000680948.1:c.*661G>C	ENSP00000505441.1:n.*661G>C
ENST00000680964.1:c.794G>C	ENSP00000505961.1:p.Gly265Ala
ENST00000681037.1:c.*2278G>C	ENSP00000506025.1:n.*2278G>C
ENST00000681063.1:c.600-947G>C	ENSP00000506616.1:n.600-947G>C
ENST00000681209.1:c.*449G>C	ENSP00000505877.1:n.*449G>C
ENST00000681278.1:n.1151G>C
ENST00000681289.1:n.4789G>C
ENST00000681361.1:c.*461G>C	ENSP00000506679.1:n.*461G>C
ENST00000681430.1:c.794G>C	ENSP00000506301.1:p.Gly265Ala
ENST00000681446.1:c.*376G>C	ENSP00000506244.1:n.*376G>C
ENST00000681450.1:c.*465G>C	ENSP00000505660.1:n.*465G>C
ENST00000681548.1:c.*380G>C	ENSP00000505275.1:n.*380G>C
ENST00000681616.1:c.*453G>C	ENSP00000505111.1:n.*453G>C
ENST00000681621.1:c.*378G>C	ENSP00000505770.1:n.*378G>C
ENST00000681680.1:n.2889G>C
ENST00000681720.1:c.*249G>C	ENSP00000505438.1:n.*249G>C
ENST00000681730.1:n.1016G>C
ENST00000681790.1:c.536G>C	ENSP00000505130.1:p.Gly179Ala
ENST00000681837.1:n.1410G>C
ENST00000681913.1:n.2918G>C
ENST00000681916.1:c.*562G>C	ENSP00000506477.1:n.*562G>C
ENST00000681930.1:n.2918G>C
ENST00000370834.9:c.893G>C	ENSP00000359871.5:p.Gly298Ala
ENST00000370841.8:c.794G>C	ENSP00000359878.4:p.Gly265Ala
ENST00000420607.6:c.806G>C	ENSP00000409612.2:p.Gly269Ala
ENST00000525808.5:c.*380G>C	ENSP00000434823.1:n.*380G>C
ENST00000526129.5:c.*578G>C	ENSP00000434092.1:n.*578G>C
ENST00000526196.5:c.*562G>C	ENSP00000431953.1:n.*562G>C
ENST00000526930.1:n.567G>C
ENST00000528016.1:c.8G>C	ENSP00000434284.1:p.Gly3Ala
ENST00000529059.5:n.703G>C
ENST00000530953.6:c.*291G>C	ENSP00000431372.1:n.*291G>C
ENST00000532207.5:n.524G>C
ENST00000532509.5:c.*558G>C	ENSP00000432522.1:n.*558G>C
ENST00000534334.5:c.*378G>C	ENSP00000435584.1:n.*378G>C
ENST00000541113.5:c.686G>C	ENSP00000442324.1:p.Gly229Ala
NM_000016.5:c.794G>C	NP_000007.1:p.Gly265Ala
NM_001127328.2:c.806G>C	NP_001120800.1:p.Gly269Ala
NM_001286042.1:c.686G>C	NP_001272971.1:p.Gly229Ala
NM_001286043.1:c.893G>C	NP_001272972.1:p.Gly298Ala
NM_001286044.1:c.227G>C	NP_001272973.1:p.Gly76Ala
NM_000016.6:c.794G>C MANE Select	NP_000007.1:p.Gly265Ala
NM_001127328.3:c.806G>C	NP_001120800.1:p.Gly269Ala
NM_001286042.2:c.686G>C	NP_001272971.1:p.Gly229Ala
NM_001286043.2:c.893G>C	NP_001272972.1:p.Gly298Ala
NM_001286044.2:c.227G>C	NP_001272973.1:p.Gly76Ala