Canonical Allele Identifier: CA340816720

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215197G>C (hg19) ; chr1:g.75749512G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749512G>C , CM000663.2:g.75749512G>C	GRCh38
NC_000001.10:g.76215197G>C , CM000663.1:g.76215197G>C	GRCh37
NC_000001.9:g.75987785G>C	NCBI36
NG_007045.2:g.30155G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.802G>C MANE Select	ENSP00000359878.5:p.Ala268Pro
ENST00000473018.3:n.2926G>C
ENST00000532207.6:n.1691G>C
ENST00000541113.6:c.802G>C	ENSP00000442324.2:p.Ala268Pro
ENST00000679509.1:n.1764G>C
ENST00000679530.1:c.*570G>C	ENSP00000506454.1:n.*570G>C
ENST00000679615.1:n.2817G>C
ENST00000679687.1:c.364G>C	ENSP00000506598.1:p.Ala122Pro
ENST00000679704.1:c.*568G>C	ENSP00000505117.1:n.*568G>C
ENST00000679709.1:c.*765G>C	ENSP00000506623.1:n.*765G>C
ENST00000679976.1:c.*386G>C	ENSP00000505565.1:n.*386G>C
ENST00000680166.1:n.4091G>C
ENST00000680517.1:c.*190G>C	ENSP00000505803.1:n.*190G>C
ENST00000680582.1:n.1764G>C
ENST00000680613.1:c.*173G>C	ENSP00000506114.1:n.*173G>C
ENST00000680662.1:c.*716G>C	ENSP00000505080.1:n.*716G>C
ENST00000680691.1:c.*465G>C	ENSP00000506487.1:n.*465G>C
ENST00000680694.1:c.*390G>C	ENSP00000505658.1:n.*390G>C
ENST00000680743.1:c.*469G>C	ENSP00000505073.1:n.*469G>C
ENST00000680749.1:c.*87G>C	ENSP00000505122.1:n.*87G>C
ENST00000680798.1:c.*277G>C	ENSP00000505670.1:n.*277G>C
ENST00000680805.1:c.709-939G>C	ENSP00000505447.1:n.709-939G>C
ENST00000680844.1:c.*586G>C	ENSP00000506541.1:n.*586G>C
ENST00000680948.1:c.*669G>C	ENSP00000505441.1:n.*669G>C
ENST00000680964.1:c.802G>C	ENSP00000505961.1:p.Ala268Pro
ENST00000681037.1:c.*2286G>C	ENSP00000506025.1:n.*2286G>C
ENST00000681063.1:c.600-939G>C	ENSP00000506616.1:n.600-939G>C
ENST00000681209.1:c.*457G>C	ENSP00000505877.1:n.*457G>C
ENST00000681278.1:n.1159G>C
ENST00000681289.1:n.4797G>C
ENST00000681361.1:c.*469G>C	ENSP00000506679.1:n.*469G>C
ENST00000681430.1:c.802G>C	ENSP00000506301.1:p.Ala268Pro
ENST00000681446.1:c.*384G>C	ENSP00000506244.1:n.*384G>C
ENST00000681450.1:c.*473G>C	ENSP00000505660.1:n.*473G>C
ENST00000681548.1:c.*388G>C	ENSP00000505275.1:n.*388G>C
ENST00000681616.1:c.*461G>C	ENSP00000505111.1:n.*461G>C
ENST00000681621.1:c.*386G>C	ENSP00000505770.1:n.*386G>C
ENST00000681680.1:n.2897G>C
ENST00000681720.1:c.*257G>C	ENSP00000505438.1:n.*257G>C
ENST00000681730.1:n.1024G>C
ENST00000681790.1:c.544G>C	ENSP00000505130.1:p.Ala182Pro
ENST00000681837.1:n.1418G>C
ENST00000681913.1:n.2926G>C
ENST00000681916.1:c.*570G>C	ENSP00000506477.1:n.*570G>C
ENST00000681930.1:n.2926G>C
ENST00000370834.9:c.901G>C	ENSP00000359871.5:p.Ala301Pro
ENST00000370841.8:c.802G>C	ENSP00000359878.4:p.Ala268Pro
ENST00000420607.6:c.814G>C	ENSP00000409612.2:p.Ala272Pro
ENST00000525808.5:c.*388G>C	ENSP00000434823.1:n.*388G>C
ENST00000526129.5:c.*586G>C	ENSP00000434092.1:n.*586G>C
ENST00000526196.5:c.*570G>C	ENSP00000431953.1:n.*570G>C
ENST00000526930.1:n.575G>C
ENST00000528016.1:c.16G>C	ENSP00000434284.1:p.Ala6Pro
ENST00000529059.5:n.711G>C
ENST00000530953.6:c.*299G>C	ENSP00000431372.1:n.*299G>C
ENST00000532207.5:n.532G>C
ENST00000532509.5:c.*566G>C	ENSP00000432522.1:n.*566G>C
ENST00000534334.5:c.*386G>C	ENSP00000435584.1:n.*386G>C
ENST00000541113.5:c.694G>C	ENSP00000442324.1:p.Ala232Pro
NM_000016.5:c.802G>C	NP_000007.1:p.Ala268Pro
NM_001127328.2:c.814G>C	NP_001120800.1:p.Ala272Pro
NM_001286042.1:c.694G>C	NP_001272971.1:p.Ala232Pro
NM_001286043.1:c.901G>C	NP_001272972.1:p.Ala301Pro
NM_001286044.1:c.235G>C	NP_001272973.1:p.Ala79Pro
NM_000016.6:c.802G>C MANE Select	NP_000007.1:p.Ala268Pro
NM_001127328.3:c.814G>C	NP_001120800.1:p.Ala272Pro
NM_001286042.2:c.694G>C	NP_001272971.1:p.Ala232Pro
NM_001286043.2:c.901G>C	NP_001272972.1:p.Ala301Pro
NM_001286044.2:c.235G>C	NP_001272973.1:p.Ala79Pro