Canonical Allele Identifier: CA340818218

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226985T>A (hg19) ; chr1:g.75761300T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761300T>A , CM000663.2:g.75761300T>A	GRCh38
NC_000001.10:g.76226985T>A , CM000663.1:g.76226985T>A	GRCh37
NC_000001.9:g.75999573T>A	NCBI36
NG_007045.2:g.41943T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1124T>A MANE Select	ENSP00000359878.5:p.Ile375Lys
ENST00000473018.3:n.3248T>A
ENST00000532207.6:n.2135T>A
ENST00000541113.6:c.1028T>A	ENSP00000442324.2:p.Ile343Lys
ENST00000679509.1:n.2086T>A
ENST00000679530.1:c.*892T>A	ENSP00000506454.1:n.*892T>A
ENST00000679615.1:n.3139T>A
ENST00000679687.1:c.686T>A	ENSP00000506598.1:p.Ile229Lys
ENST00000679704.1:c.*890T>A	ENSP00000505117.1:n.*890T>A
ENST00000679709.1:c.*1087T>A	ENSP00000506623.1:n.*1087T>A
ENST00000679976.1:c.*708T>A	ENSP00000505565.1:n.*708T>A
ENST00000680166.1:n.4413T>A
ENST00000680315.1:n.1007T>A
ENST00000680517.1:c.*512T>A	ENSP00000505803.1:n.*512T>A
ENST00000680582.1:n.2086T>A
ENST00000680613.1:c.*617T>A	ENSP00000506114.1:n.*617T>A
ENST00000680662.1:c.*1038T>A	ENSP00000505080.1:n.*1038T>A
ENST00000680691.1:c.*787T>A	ENSP00000506487.1:n.*787T>A
ENST00000680694.1:c.*712T>A	ENSP00000505658.1:n.*712T>A
ENST00000680743.1:c.*913T>A	ENSP00000505073.1:n.*913T>A
ENST00000680749.1:c.*409T>A	ENSP00000505122.1:n.*409T>A
ENST00000680798.1:c.*599T>A	ENSP00000505670.1:n.*599T>A
ENST00000680805.1:c.983T>A	ENSP00000505447.1:p.Ile328Lys
ENST00000680844.1:c.*908T>A	ENSP00000506541.1:n.*908T>A
ENST00000680948.1:c.*991T>A	ENSP00000505441.1:n.*991T>A
ENST00000680964.1:c.*217T>A	ENSP00000505961.1:n.*217T>A
ENST00000681037.1:c.*2608T>A	ENSP00000506025.1:n.*2608T>A
ENST00000681063.1:c.*393T>A	ENSP00000506616.1:n.*393T>A
ENST00000681209.1:c.*779T>A	ENSP00000505877.1:n.*779T>A
ENST00000681278.1:n.1826T>A
ENST00000681289.1:n.5119T>A
ENST00000681361.1:c.*791T>A	ENSP00000506679.1:n.*791T>A
ENST00000681430.1:c.*217T>A	ENSP00000506301.1:n.*217T>A
ENST00000681446.1:c.*828T>A	ENSP00000506244.1:n.*828T>A
ENST00000681450.1:c.*795T>A	ENSP00000505660.1:n.*795T>A
ENST00000681548.1:c.*710T>A	ENSP00000505275.1:n.*710T>A
ENST00000681616.1:c.*783T>A	ENSP00000505111.1:n.*783T>A
ENST00000681621.1:c.*708T>A	ENSP00000505770.1:n.*708T>A
ENST00000681680.1:n.3219T>A
ENST00000681720.1:c.*579T>A	ENSP00000505438.1:n.*579T>A
ENST00000681730.1:n.1346T>A
ENST00000681790.1:c.866T>A	ENSP00000505130.1:p.Ile289Lys
ENST00000681837.1:n.1740T>A
ENST00000681913.1:n.3370T>A
ENST00000681916.1:c.*892T>A	ENSP00000506477.1:n.*892T>A
ENST00000681930.1:n.3248T>A
ENST00000370834.9:c.1223T>A	ENSP00000359871.5:p.Ile408Lys
ENST00000370841.8:c.1124T>A	ENSP00000359878.4:p.Ile375Lys
ENST00000420607.6:c.1136T>A	ENSP00000409612.2:p.Ile379Lys
ENST00000481374.1:n.397T>A
ENST00000525808.5:c.*710T>A	ENSP00000434823.1:n.*710T>A
ENST00000526129.5:c.*908T>A	ENSP00000434092.1:n.*908T>A
ENST00000526196.5:c.*892T>A	ENSP00000431953.1:n.*892T>A
ENST00000528016.1:c.160-7877T>A	ENSP00000434284.1:n.160-7877T>A
ENST00000529059.5:n.1033T>A
ENST00000541113.5:c.1016T>A	ENSP00000442324.1:p.Ile339Lys
NM_000016.5:c.1124T>A	NP_000007.1:p.Ile375Lys
NM_001127328.2:c.1136T>A	NP_001120800.1:p.Ile379Lys
NM_001286042.1:c.1016T>A	NP_001272971.1:p.Ile339Lys
NM_001286043.1:c.1223T>A	NP_001272972.1:p.Ile408Lys
NM_001286044.1:c.557T>A	NP_001272973.1:p.Ile186Lys
NM_000016.6:c.1124T>A MANE Select	NP_000007.1:p.Ile375Lys
NM_001127328.3:c.1136T>A	NP_001120800.1:p.Ile379Lys
NM_001286042.2:c.1016T>A	NP_001272971.1:p.Ile339Lys
NM_001286043.2:c.1223T>A	NP_001272972.1:p.Ile408Lys
NM_001286044.2:c.557T>A	NP_001272973.1:p.Ile186Lys