Canonical Allele Identifier: CA340816630

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215163A>T (hg19) ; chr1:g.75749478A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749478A>T , CM000663.2:g.75749478A>T	GRCh38
NC_000001.10:g.76215163A>T , CM000663.1:g.76215163A>T	GRCh37
NC_000001.9:g.75987751A>T	NCBI36
NG_007045.2:g.30121A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.768A>T MANE Select	ENSP00000359878.5:p.Lys256Asn
ENST00000473018.3:n.2892A>T
ENST00000532207.6:n.1657A>T
ENST00000541113.6:c.768A>T	ENSP00000442324.2:p.Lys256Asn
ENST00000679509.1:n.1730A>T
ENST00000679530.1:c.*536A>T	ENSP00000506454.1:n.*536A>T
ENST00000679615.1:n.2783A>T
ENST00000679687.1:c.330A>T	ENSP00000506598.1:p.Lys110Asn
ENST00000679704.1:c.*534A>T	ENSP00000505117.1:n.*534A>T
ENST00000679709.1:c.*731A>T	ENSP00000506623.1:n.*731A>T
ENST00000679976.1:c.*352A>T	ENSP00000505565.1:n.*352A>T
ENST00000680166.1:n.4057A>T
ENST00000680517.1:c.*156A>T	ENSP00000505803.1:n.*156A>T
ENST00000680582.1:n.1730A>T
ENST00000680613.1:c.*139A>T	ENSP00000506114.1:n.*139A>T
ENST00000680662.1:c.*682A>T	ENSP00000505080.1:n.*682A>T
ENST00000680691.1:c.*431A>T	ENSP00000506487.1:n.*431A>T
ENST00000680694.1:c.*356A>T	ENSP00000505658.1:n.*356A>T
ENST00000680743.1:c.*435A>T	ENSP00000505073.1:n.*435A>T
ENST00000680749.1:c.*53A>T	ENSP00000505122.1:n.*53A>T
ENST00000680798.1:c.*243A>T	ENSP00000505670.1:n.*243A>T
ENST00000680805.1:c.709-973A>T	ENSP00000505447.1:n.709-973A>T
ENST00000680844.1:c.*552A>T	ENSP00000506541.1:n.*552A>T
ENST00000680948.1:c.*635A>T	ENSP00000505441.1:n.*635A>T
ENST00000680964.1:c.768A>T	ENSP00000505961.1:p.Lys256Asn
ENST00000681037.1:c.*2252A>T	ENSP00000506025.1:n.*2252A>T
ENST00000681063.1:c.600-973A>T	ENSP00000506616.1:n.600-973A>T
ENST00000681209.1:c.*423A>T	ENSP00000505877.1:n.*423A>T
ENST00000681278.1:n.1125A>T
ENST00000681289.1:n.4763A>T
ENST00000681361.1:c.*435A>T	ENSP00000506679.1:n.*435A>T
ENST00000681430.1:c.768A>T	ENSP00000506301.1:p.Lys256Asn
ENST00000681446.1:c.*350A>T	ENSP00000506244.1:n.*350A>T
ENST00000681450.1:c.*439A>T	ENSP00000505660.1:n.*439A>T
ENST00000681548.1:c.*354A>T	ENSP00000505275.1:n.*354A>T
ENST00000681616.1:c.*427A>T	ENSP00000505111.1:n.*427A>T
ENST00000681621.1:c.*352A>T	ENSP00000505770.1:n.*352A>T
ENST00000681680.1:n.2863A>T
ENST00000681720.1:c.*223A>T	ENSP00000505438.1:n.*223A>T
ENST00000681730.1:n.990A>T
ENST00000681790.1:c.510A>T	ENSP00000505130.1:p.Lys170Asn
ENST00000681837.1:n.1384A>T
ENST00000681913.1:n.2892A>T
ENST00000681916.1:c.*536A>T	ENSP00000506477.1:n.*536A>T
ENST00000681930.1:n.2892A>T
ENST00000370834.9:c.867A>T	ENSP00000359871.5:p.Lys289Asn
ENST00000370841.8:c.768A>T	ENSP00000359878.4:p.Lys256Asn
ENST00000420607.6:c.780A>T	ENSP00000409612.2:p.Lys260Asn
ENST00000525808.5:c.*354A>T	ENSP00000434823.1:n.*354A>T
ENST00000526129.5:c.*552A>T	ENSP00000434092.1:n.*552A>T
ENST00000526196.5:c.*536A>T	ENSP00000431953.1:n.*536A>T
ENST00000526930.1:n.541A>T
ENST00000529059.5:n.677A>T
ENST00000530953.6:c.*265A>T	ENSP00000431372.1:n.*265A>T
ENST00000532207.5:n.498A>T
ENST00000532509.5:c.*532A>T	ENSP00000432522.1:n.*532A>T
ENST00000534334.5:c.*352A>T	ENSP00000435584.1:n.*352A>T
ENST00000541113.5:c.660A>T	ENSP00000442324.1:p.Lys220Asn
NM_000016.5:c.768A>T	NP_000007.1:p.Lys256Asn
NM_001127328.2:c.780A>T	NP_001120800.1:p.Lys260Asn
NM_001286042.1:c.660A>T	NP_001272971.1:p.Lys220Asn
NM_001286043.1:c.867A>T	NP_001272972.1:p.Lys289Asn
NM_001286044.1:c.201A>T	NP_001272973.1:p.Lys67Asn
NM_000016.6:c.768A>T MANE Select	NP_000007.1:p.Lys256Asn
NM_001127328.3:c.780A>T	NP_001120800.1:p.Lys260Asn
NM_001286042.2:c.660A>T	NP_001272971.1:p.Lys220Asn
NM_001286043.2:c.867A>T	NP_001272972.1:p.Lys289Asn
NM_001286044.2:c.201A>T	NP_001272973.1:p.Lys67Asn