Canonical Allele Identifier: CA340816565

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215132A>C (hg19) ; chr1:g.75749447A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749447A>C , CM000663.2:g.75749447A>C	GRCh38
NC_000001.10:g.76215132A>C , CM000663.1:g.76215132A>C	GRCh37
NC_000001.9:g.75987720A>C	NCBI36
NG_007045.2:g.30090A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.737A>C MANE Select	ENSP00000359878.5:p.Asp246Ala
ENST00000473018.3:n.2861A>C
ENST00000532207.6:n.1626A>C
ENST00000541113.6:c.737A>C	ENSP00000442324.2:p.Asp246Ala
ENST00000679509.1:n.1699A>C
ENST00000679530.1:c.*505A>C	ENSP00000506454.1:n.*505A>C
ENST00000679615.1:n.2752A>C
ENST00000679687.1:c.299A>C	ENSP00000506598.1:p.Asp100Ala
ENST00000679704.1:c.*503A>C	ENSP00000505117.1:n.*503A>C
ENST00000679709.1:c.*700A>C	ENSP00000506623.1:n.*700A>C
ENST00000679976.1:c.*321A>C	ENSP00000505565.1:n.*321A>C
ENST00000680166.1:n.4026A>C
ENST00000680517.1:c.*125A>C	ENSP00000505803.1:n.*125A>C
ENST00000680582.1:n.1699A>C
ENST00000680613.1:c.*108A>C	ENSP00000506114.1:n.*108A>C
ENST00000680662.1:c.*651A>C	ENSP00000505080.1:n.*651A>C
ENST00000680691.1:c.*400A>C	ENSP00000506487.1:n.*400A>C
ENST00000680694.1:c.*325A>C	ENSP00000505658.1:n.*325A>C
ENST00000680743.1:c.*404A>C	ENSP00000505073.1:n.*404A>C
ENST00000680749.1:c.*22A>C	ENSP00000505122.1:n.*22A>C
ENST00000680798.1:c.*212A>C	ENSP00000505670.1:n.*212A>C
ENST00000680805.1:c.709-1004A>C	ENSP00000505447.1:n.709-1004A>C
ENST00000680844.1:c.*521A>C	ENSP00000506541.1:n.*521A>C
ENST00000680948.1:c.*604A>C	ENSP00000505441.1:n.*604A>C
ENST00000680964.1:c.737A>C	ENSP00000505961.1:p.Asp246Ala
ENST00000681037.1:c.*2221A>C	ENSP00000506025.1:n.*2221A>C
ENST00000681063.1:c.600-1004A>C	ENSP00000506616.1:n.600-1004A>C
ENST00000681209.1:c.*392A>C	ENSP00000505877.1:n.*392A>C
ENST00000681278.1:n.1094A>C
ENST00000681289.1:n.4732A>C
ENST00000681361.1:c.*404A>C	ENSP00000506679.1:n.*404A>C
ENST00000681430.1:c.737A>C	ENSP00000506301.1:p.Asp246Ala
ENST00000681446.1:c.*319A>C	ENSP00000506244.1:n.*319A>C
ENST00000681450.1:c.*408A>C	ENSP00000505660.1:n.*408A>C
ENST00000681548.1:c.*323A>C	ENSP00000505275.1:n.*323A>C
ENST00000681616.1:c.*396A>C	ENSP00000505111.1:n.*396A>C
ENST00000681621.1:c.*321A>C	ENSP00000505770.1:n.*321A>C
ENST00000681680.1:n.2832A>C
ENST00000681720.1:c.*192A>C	ENSP00000505438.1:n.*192A>C
ENST00000681730.1:n.959A>C
ENST00000681790.1:c.479A>C	ENSP00000505130.1:p.Asp160Ala
ENST00000681837.1:n.1353A>C
ENST00000681913.1:n.2861A>C
ENST00000681916.1:c.*505A>C	ENSP00000506477.1:n.*505A>C
ENST00000681930.1:n.2861A>C
ENST00000370834.9:c.836A>C	ENSP00000359871.5:p.Asp279Ala
ENST00000370841.8:c.737A>C	ENSP00000359878.4:p.Asp246Ala
ENST00000420607.6:c.749A>C	ENSP00000409612.2:p.Asp250Ala
ENST00000525808.5:c.*323A>C	ENSP00000434823.1:n.*323A>C
ENST00000526129.5:c.*521A>C	ENSP00000434092.1:n.*521A>C
ENST00000526196.5:c.*505A>C	ENSP00000431953.1:n.*505A>C
ENST00000526930.1:n.510A>C
ENST00000529059.5:n.646A>C
ENST00000530953.6:c.*234A>C	ENSP00000431372.1:n.*234A>C
ENST00000532207.5:n.467A>C
ENST00000532509.5:c.*501A>C	ENSP00000432522.1:n.*501A>C
ENST00000534334.5:c.*321A>C	ENSP00000435584.1:n.*321A>C
ENST00000541113.5:c.629A>C	ENSP00000442324.1:p.Asp210Ala
NM_000016.5:c.737A>C	NP_000007.1:p.Asp246Ala
NM_001127328.2:c.749A>C	NP_001120800.1:p.Asp250Ala
NM_001286042.1:c.629A>C	NP_001272971.1:p.Asp210Ala
NM_001286043.1:c.836A>C	NP_001272972.1:p.Asp279Ala
NM_001286044.1:c.170A>C	NP_001272973.1:p.Asp57Ala
NM_000016.6:c.737A>C MANE Select	NP_000007.1:p.Asp246Ala
NM_001127328.3:c.749A>C	NP_001120800.1:p.Asp250Ala
NM_001286042.2:c.629A>C	NP_001272971.1:p.Asp210Ala
NM_001286043.2:c.836A>C	NP_001272972.1:p.Asp279Ala
NM_001286044.2:c.170A>C	NP_001272973.1:p.Asp57Ala