Canonical Allele Identifier: CA340816628

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215162A>T (hg19) ; chr1:g.75749477A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749477A>T , CM000663.2:g.75749477A>T	GRCh38
NC_000001.10:g.76215162A>T , CM000663.1:g.76215162A>T	GRCh37
NC_000001.9:g.75987750A>T	NCBI36
NG_007045.2:g.30120A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.767A>T MANE Select	ENSP00000359878.5:p.Lys256Ile
ENST00000473018.3:n.2891A>T
ENST00000532207.6:n.1656A>T
ENST00000541113.6:c.767A>T	ENSP00000442324.2:p.Lys256Ile
ENST00000679509.1:n.1729A>T
ENST00000679530.1:c.*535A>T	ENSP00000506454.1:n.*535A>T
ENST00000679615.1:n.2782A>T
ENST00000679687.1:c.329A>T	ENSP00000506598.1:p.Lys110Ile
ENST00000679704.1:c.*533A>T	ENSP00000505117.1:n.*533A>T
ENST00000679709.1:c.*730A>T	ENSP00000506623.1:n.*730A>T
ENST00000679976.1:c.*351A>T	ENSP00000505565.1:n.*351A>T
ENST00000680166.1:n.4056A>T
ENST00000680517.1:c.*155A>T	ENSP00000505803.1:n.*155A>T
ENST00000680582.1:n.1729A>T
ENST00000680613.1:c.*138A>T	ENSP00000506114.1:n.*138A>T
ENST00000680662.1:c.*681A>T	ENSP00000505080.1:n.*681A>T
ENST00000680691.1:c.*430A>T	ENSP00000506487.1:n.*430A>T
ENST00000680694.1:c.*355A>T	ENSP00000505658.1:n.*355A>T
ENST00000680743.1:c.*434A>T	ENSP00000505073.1:n.*434A>T
ENST00000680749.1:c.*52A>T	ENSP00000505122.1:n.*52A>T
ENST00000680798.1:c.*242A>T	ENSP00000505670.1:n.*242A>T
ENST00000680805.1:c.709-974A>T	ENSP00000505447.1:n.709-974A>T
ENST00000680844.1:c.*551A>T	ENSP00000506541.1:n.*551A>T
ENST00000680948.1:c.*634A>T	ENSP00000505441.1:n.*634A>T
ENST00000680964.1:c.767A>T	ENSP00000505961.1:p.Lys256Ile
ENST00000681037.1:c.*2251A>T	ENSP00000506025.1:n.*2251A>T
ENST00000681063.1:c.600-974A>T	ENSP00000506616.1:n.600-974A>T
ENST00000681209.1:c.*422A>T	ENSP00000505877.1:n.*422A>T
ENST00000681278.1:n.1124A>T
ENST00000681289.1:n.4762A>T
ENST00000681361.1:c.*434A>T	ENSP00000506679.1:n.*434A>T
ENST00000681430.1:c.767A>T	ENSP00000506301.1:p.Lys256Ile
ENST00000681446.1:c.*349A>T	ENSP00000506244.1:n.*349A>T
ENST00000681450.1:c.*438A>T	ENSP00000505660.1:n.*438A>T
ENST00000681548.1:c.*353A>T	ENSP00000505275.1:n.*353A>T
ENST00000681616.1:c.*426A>T	ENSP00000505111.1:n.*426A>T
ENST00000681621.1:c.*351A>T	ENSP00000505770.1:n.*351A>T
ENST00000681680.1:n.2862A>T
ENST00000681720.1:c.*222A>T	ENSP00000505438.1:n.*222A>T
ENST00000681730.1:n.989A>T
ENST00000681790.1:c.509A>T	ENSP00000505130.1:p.Lys170Ile
ENST00000681837.1:n.1383A>T
ENST00000681913.1:n.2891A>T
ENST00000681916.1:c.*535A>T	ENSP00000506477.1:n.*535A>T
ENST00000681930.1:n.2891A>T
ENST00000370834.9:c.866A>T	ENSP00000359871.5:p.Lys289Ile
ENST00000370841.8:c.767A>T	ENSP00000359878.4:p.Lys256Ile
ENST00000420607.6:c.779A>T	ENSP00000409612.2:p.Lys260Ile
ENST00000525808.5:c.*353A>T	ENSP00000434823.1:n.*353A>T
ENST00000526129.5:c.*551A>T	ENSP00000434092.1:n.*551A>T
ENST00000526196.5:c.*535A>T	ENSP00000431953.1:n.*535A>T
ENST00000526930.1:n.540A>T
ENST00000529059.5:n.676A>T
ENST00000530953.6:c.*264A>T	ENSP00000431372.1:n.*264A>T
ENST00000532207.5:n.497A>T
ENST00000532509.5:c.*531A>T	ENSP00000432522.1:n.*531A>T
ENST00000534334.5:c.*351A>T	ENSP00000435584.1:n.*351A>T
ENST00000541113.5:c.659A>T	ENSP00000442324.1:p.Lys220Ile
NM_000016.5:c.767A>T	NP_000007.1:p.Lys256Ile
NM_001127328.2:c.779A>T	NP_001120800.1:p.Lys260Ile
NM_001286042.1:c.659A>T	NP_001272971.1:p.Lys220Ile
NM_001286043.1:c.866A>T	NP_001272972.1:p.Lys289Ile
NM_001286044.1:c.200A>T	NP_001272973.1:p.Lys67Ile
NM_000016.6:c.767A>T MANE Select	NP_000007.1:p.Lys256Ile
NM_001127328.3:c.779A>T	NP_001120800.1:p.Lys260Ile
NM_001286042.2:c.659A>T	NP_001272971.1:p.Lys220Ile
NM_001286043.2:c.866A>T	NP_001272972.1:p.Lys289Ile
NM_001286044.2:c.200A>T	NP_001272973.1:p.Lys67Ile