Canonical Allele Identifier: CA340818349

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227046A>T (hg19) ; chr1:g.75761361A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761361A>T , CM000663.2:g.75761361A>T	GRCh38
NC_000001.10:g.76227046A>T , CM000663.1:g.76227046A>T	GRCh37
NC_000001.9:g.75999634A>T	NCBI36
NG_007045.2:g.42004A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1185A>T MANE Select	ENSP00000359878.5:p.Lys395Asn
ENST00000473018.3:n.3309A>T
ENST00000532207.6:n.2196A>T
ENST00000541113.6:c.1089A>T	ENSP00000442324.2:p.Lys363Asn
ENST00000679509.1:n.2147A>T
ENST00000679530.1:c.*953A>T	ENSP00000506454.1:n.*953A>T
ENST00000679615.1:n.3200A>T
ENST00000679687.1:c.747A>T	ENSP00000506598.1:p.Lys249Asn
ENST00000679704.1:c.*951A>T	ENSP00000505117.1:n.*951A>T
ENST00000679709.1:c.*1148A>T	ENSP00000506623.1:n.*1148A>T
ENST00000679976.1:c.*769A>T	ENSP00000505565.1:n.*769A>T
ENST00000680166.1:n.4474A>T
ENST00000680315.1:n.1068A>T
ENST00000680517.1:c.*573A>T	ENSP00000505803.1:n.*573A>T
ENST00000680582.1:n.2147A>T
ENST00000680613.1:c.*678A>T	ENSP00000506114.1:n.*678A>T
ENST00000680662.1:c.*1099A>T	ENSP00000505080.1:n.*1099A>T
ENST00000680691.1:c.*848A>T	ENSP00000506487.1:n.*848A>T
ENST00000680694.1:c.*773A>T	ENSP00000505658.1:n.*773A>T
ENST00000680743.1:c.*974A>T	ENSP00000505073.1:n.*974A>T
ENST00000680749.1:c.*470A>T	ENSP00000505122.1:n.*470A>T
ENST00000680798.1:c.*660A>T	ENSP00000505670.1:n.*660A>T
ENST00000680805.1:c.1044A>T	ENSP00000505447.1:p.Lys348Asn
ENST00000680844.1:c.*969A>T	ENSP00000506541.1:n.*969A>T
ENST00000680948.1:c.*1052A>T	ENSP00000505441.1:n.*1052A>T
ENST00000680964.1:c.*278A>T	ENSP00000505961.1:n.*278A>T
ENST00000681037.1:c.*2669A>T	ENSP00000506025.1:n.*2669A>T
ENST00000681063.1:c.*454A>T	ENSP00000506616.1:n.*454A>T
ENST00000681209.1:c.*840A>T	ENSP00000505877.1:n.*840A>T
ENST00000681278.1:n.1887A>T
ENST00000681289.1:n.5180A>T
ENST00000681361.1:c.*852A>T	ENSP00000506679.1:n.*852A>T
ENST00000681430.1:c.*278A>T	ENSP00000506301.1:n.*278A>T
ENST00000681446.1:c.*889A>T	ENSP00000506244.1:n.*889A>T
ENST00000681450.1:c.*856A>T	ENSP00000505660.1:n.*856A>T
ENST00000681548.1:c.*771A>T	ENSP00000505275.1:n.*771A>T
ENST00000681616.1:c.*844A>T	ENSP00000505111.1:n.*844A>T
ENST00000681621.1:c.*769A>T	ENSP00000505770.1:n.*769A>T
ENST00000681680.1:n.3280A>T
ENST00000681720.1:c.*640A>T	ENSP00000505438.1:n.*640A>T
ENST00000681730.1:n.1407A>T
ENST00000681790.1:c.927A>T	ENSP00000505130.1:p.Lys309Asn
ENST00000681837.1:n.1801A>T
ENST00000681913.1:n.3431A>T
ENST00000681916.1:c.*953A>T	ENSP00000506477.1:n.*953A>T
ENST00000681930.1:n.3309A>T
ENST00000370834.9:c.1284A>T	ENSP00000359871.5:p.Lys428Asn
ENST00000370841.8:c.1185A>T	ENSP00000359878.4:p.Lys395Asn
ENST00000420607.6:c.1197A>T	ENSP00000409612.2:p.Lys399Asn
ENST00000481374.1:n.458A>T
ENST00000525808.5:c.*771A>T	ENSP00000434823.1:n.*771A>T
ENST00000526129.5:c.*969A>T	ENSP00000434092.1:n.*969A>T
ENST00000526196.5:c.*953A>T	ENSP00000431953.1:n.*953A>T
ENST00000528016.1:c.160-7816A>T	ENSP00000434284.1:n.160-7816A>T
ENST00000529059.5:n.1094A>T
ENST00000541113.5:c.1077A>T	ENSP00000442324.1:p.Lys359Asn
NM_000016.5:c.1185A>T	NP_000007.1:p.Lys395Asn
NM_001127328.2:c.1197A>T	NP_001120800.1:p.Lys399Asn
NM_001286042.1:c.1077A>T	NP_001272971.1:p.Lys359Asn
NM_001286043.1:c.1284A>T	NP_001272972.1:p.Lys428Asn
NM_001286044.1:c.618A>T	NP_001272973.1:p.Lys206Asn
NM_000016.6:c.1185A>T MANE Select	NP_000007.1:p.Lys395Asn
NM_001127328.3:c.1197A>T	NP_001120800.1:p.Lys399Asn
NM_001286042.2:c.1077A>T	NP_001272971.1:p.Lys359Asn
NM_001286043.2:c.1284A>T	NP_001272972.1:p.Lys428Asn
NM_001286044.2:c.618A>T	NP_001272973.1:p.Lys206Asn