Canonical Allele Identifier: CA340816679

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215185A>C (hg19) ; chr1:g.75749500A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749500A>C , CM000663.2:g.75749500A>C	GRCh38
NC_000001.10:g.76215185A>C , CM000663.1:g.76215185A>C	GRCh37
NC_000001.9:g.75987773A>C	NCBI36
NG_007045.2:g.30143A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.790A>C MANE Select	ENSP00000359878.5:p.Ile264Leu
ENST00000473018.3:n.2914A>C
ENST00000532207.6:n.1679A>C
ENST00000541113.6:c.790A>C	ENSP00000442324.2:p.Ile264Leu
ENST00000679509.1:n.1752A>C
ENST00000679530.1:c.*558A>C	ENSP00000506454.1:n.*558A>C
ENST00000679615.1:n.2805A>C
ENST00000679687.1:c.352A>C	ENSP00000506598.1:p.Ile118Leu
ENST00000679704.1:c.*556A>C	ENSP00000505117.1:n.*556A>C
ENST00000679709.1:c.*753A>C	ENSP00000506623.1:n.*753A>C
ENST00000679976.1:c.*374A>C	ENSP00000505565.1:n.*374A>C
ENST00000680166.1:n.4079A>C
ENST00000680517.1:c.*178A>C	ENSP00000505803.1:n.*178A>C
ENST00000680582.1:n.1752A>C
ENST00000680613.1:c.*161A>C	ENSP00000506114.1:n.*161A>C
ENST00000680662.1:c.*704A>C	ENSP00000505080.1:n.*704A>C
ENST00000680691.1:c.*453A>C	ENSP00000506487.1:n.*453A>C
ENST00000680694.1:c.*378A>C	ENSP00000505658.1:n.*378A>C
ENST00000680743.1:c.*457A>C	ENSP00000505073.1:n.*457A>C
ENST00000680749.1:c.*75A>C	ENSP00000505122.1:n.*75A>C
ENST00000680798.1:c.*265A>C	ENSP00000505670.1:n.*265A>C
ENST00000680805.1:c.709-951A>C	ENSP00000505447.1:n.709-951A>C
ENST00000680844.1:c.*574A>C	ENSP00000506541.1:n.*574A>C
ENST00000680948.1:c.*657A>C	ENSP00000505441.1:n.*657A>C
ENST00000680964.1:c.790A>C	ENSP00000505961.1:p.Ile264Leu
ENST00000681037.1:c.*2274A>C	ENSP00000506025.1:n.*2274A>C
ENST00000681063.1:c.600-951A>C	ENSP00000506616.1:n.600-951A>C
ENST00000681209.1:c.*445A>C	ENSP00000505877.1:n.*445A>C
ENST00000681278.1:n.1147A>C
ENST00000681289.1:n.4785A>C
ENST00000681361.1:c.*457A>C	ENSP00000506679.1:n.*457A>C
ENST00000681430.1:c.790A>C	ENSP00000506301.1:p.Ile264Leu
ENST00000681446.1:c.*372A>C	ENSP00000506244.1:n.*372A>C
ENST00000681450.1:c.*461A>C	ENSP00000505660.1:n.*461A>C
ENST00000681548.1:c.*376A>C	ENSP00000505275.1:n.*376A>C
ENST00000681616.1:c.*449A>C	ENSP00000505111.1:n.*449A>C
ENST00000681621.1:c.*374A>C	ENSP00000505770.1:n.*374A>C
ENST00000681680.1:n.2885A>C
ENST00000681720.1:c.*245A>C	ENSP00000505438.1:n.*245A>C
ENST00000681730.1:n.1012A>C
ENST00000681790.1:c.532A>C	ENSP00000505130.1:p.Ile178Leu
ENST00000681837.1:n.1406A>C
ENST00000681913.1:n.2914A>C
ENST00000681916.1:c.*558A>C	ENSP00000506477.1:n.*558A>C
ENST00000681930.1:n.2914A>C
ENST00000370834.9:c.889A>C	ENSP00000359871.5:p.Ile297Leu
ENST00000370841.8:c.790A>C	ENSP00000359878.4:p.Ile264Leu
ENST00000420607.6:c.802A>C	ENSP00000409612.2:p.Ile268Leu
ENST00000525808.5:c.*376A>C	ENSP00000434823.1:n.*376A>C
ENST00000526129.5:c.*574A>C	ENSP00000434092.1:n.*574A>C
ENST00000526196.5:c.*558A>C	ENSP00000431953.1:n.*558A>C
ENST00000526930.1:n.563A>C
ENST00000528016.1:c.4A>C	ENSP00000434284.1:p.Ile2Leu
ENST00000529059.5:n.699A>C
ENST00000530953.6:c.*287A>C	ENSP00000431372.1:n.*287A>C
ENST00000532207.5:n.520A>C
ENST00000532509.5:c.*554A>C	ENSP00000432522.1:n.*554A>C
ENST00000534334.5:c.*374A>C	ENSP00000435584.1:n.*374A>C
ENST00000541113.5:c.682A>C	ENSP00000442324.1:p.Ile228Leu
NM_000016.5:c.790A>C	NP_000007.1:p.Ile264Leu
NM_001127328.2:c.802A>C	NP_001120800.1:p.Ile268Leu
NM_001286042.1:c.682A>C	NP_001272971.1:p.Ile228Leu
NM_001286043.1:c.889A>C	NP_001272972.1:p.Ile297Leu
NM_001286044.1:c.223A>C	NP_001272973.1:p.Ile75Leu
NM_000016.6:c.790A>C MANE Select	NP_000007.1:p.Ile264Leu
NM_001127328.3:c.802A>C	NP_001120800.1:p.Ile268Leu
NM_001286042.2:c.682A>C	NP_001272971.1:p.Ile228Leu
NM_001286043.2:c.889A>C	NP_001272972.1:p.Ile297Leu
NM_001286044.2:c.223A>C	NP_001272973.1:p.Ile75Leu