Canonical Allele Identifier: CA913279

Gene: ACADM

Linked Data

• dbSNP Id: rs780056894
• ExAC: 1:76227009 C / T
• gnomAD v2: 1-76227009-C-T
• gnomAD v4: 1-75761324-C-T
• MyVariant Identifiers: chr1:g.76227009C>T (hg19) ; chr1:g.75761324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761324C>T , CM000663.2:g.75761324C>T	GRCh38
NC_000001.10:g.76227009C>T , CM000663.1:g.76227009C>T	GRCh37
NC_000001.9:g.75999597C>T	NCBI36
NG_007045.2:g.41967C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1148C>T MANE Select	ENSP00000359878.5:p.Thr383Ile
ENST00000473018.3:n.3272C>T
ENST00000532207.6:n.2159C>T
ENST00000541113.6:c.1052C>T	ENSP00000442324.2:p.Thr351Ile
ENST00000679509.1:n.2110C>T
ENST00000679530.1:c.*916C>T	ENSP00000506454.1:n.*916C>T
ENST00000679615.1:n.3163C>T
ENST00000679687.1:c.710C>T	ENSP00000506598.1:p.Thr237Ile
ENST00000679704.1:c.*914C>T	ENSP00000505117.1:n.*914C>T
ENST00000679709.1:c.*1111C>T	ENSP00000506623.1:n.*1111C>T
ENST00000679976.1:c.*732C>T	ENSP00000505565.1:n.*732C>T
ENST00000680166.1:n.4437C>T
ENST00000680315.1:n.1031C>T
ENST00000680517.1:c.*536C>T	ENSP00000505803.1:n.*536C>T
ENST00000680582.1:n.2110C>T
ENST00000680613.1:c.*641C>T	ENSP00000506114.1:n.*641C>T
ENST00000680662.1:c.*1062C>T	ENSP00000505080.1:n.*1062C>T
ENST00000680691.1:c.*811C>T	ENSP00000506487.1:n.*811C>T
ENST00000680694.1:c.*736C>T	ENSP00000505658.1:n.*736C>T
ENST00000680743.1:c.*937C>T	ENSP00000505073.1:n.*937C>T
ENST00000680749.1:c.*433C>T	ENSP00000505122.1:n.*433C>T
ENST00000680798.1:c.*623C>T	ENSP00000505670.1:n.*623C>T
ENST00000680805.1:c.1007C>T	ENSP00000505447.1:p.Thr336Ile
ENST00000680844.1:c.*932C>T	ENSP00000506541.1:n.*932C>T
ENST00000680948.1:c.*1015C>T	ENSP00000505441.1:n.*1015C>T
ENST00000680964.1:c.*241C>T	ENSP00000505961.1:n.*241C>T
ENST00000681037.1:c.*2632C>T	ENSP00000506025.1:n.*2632C>T
ENST00000681063.1:c.*417C>T	ENSP00000506616.1:n.*417C>T
ENST00000681209.1:c.*803C>T	ENSP00000505877.1:n.*803C>T
ENST00000681278.1:n.1850C>T
ENST00000681289.1:n.5143C>T
ENST00000681361.1:c.*815C>T	ENSP00000506679.1:n.*815C>T
ENST00000681430.1:c.*241C>T	ENSP00000506301.1:n.*241C>T
ENST00000681446.1:c.*852C>T	ENSP00000506244.1:n.*852C>T
ENST00000681450.1:c.*819C>T	ENSP00000505660.1:n.*819C>T
ENST00000681548.1:c.*734C>T	ENSP00000505275.1:n.*734C>T
ENST00000681616.1:c.*807C>T	ENSP00000505111.1:n.*807C>T
ENST00000681621.1:c.*732C>T	ENSP00000505770.1:n.*732C>T
ENST00000681680.1:n.3243C>T
ENST00000681720.1:c.*603C>T	ENSP00000505438.1:n.*603C>T
ENST00000681730.1:n.1370C>T
ENST00000681790.1:c.890C>T	ENSP00000505130.1:p.Thr297Ile
ENST00000681837.1:n.1764C>T
ENST00000681913.1:n.3394C>T
ENST00000681916.1:c.*916C>T	ENSP00000506477.1:n.*916C>T
ENST00000681930.1:n.3272C>T
ENST00000370834.9:c.1247C>T	ENSP00000359871.5:p.Thr416Ile
ENST00000370841.8:c.1148C>T	ENSP00000359878.4:p.Thr383Ile
ENST00000420607.6:c.1160C>T	ENSP00000409612.2:p.Thr387Ile
ENST00000481374.1:n.421C>T
ENST00000525808.5:c.*734C>T	ENSP00000434823.1:n.*734C>T
ENST00000526129.5:c.*932C>T	ENSP00000434092.1:n.*932C>T
ENST00000526196.5:c.*916C>T	ENSP00000431953.1:n.*916C>T
ENST00000528016.1:c.160-7853C>T	ENSP00000434284.1:n.160-7853C>T
ENST00000529059.5:n.1057C>T
ENST00000541113.5:c.1040C>T	ENSP00000442324.1:p.Thr347Ile
NM_000016.5:c.1148C>T	NP_000007.1:p.Thr383Ile
NM_001127328.2:c.1160C>T	NP_001120800.1:p.Thr387Ile
NM_001286042.1:c.1040C>T	NP_001272971.1:p.Thr347Ile
NM_001286043.1:c.1247C>T	NP_001272972.1:p.Thr416Ile
NM_001286044.1:c.581C>T	NP_001272973.1:p.Thr194Ile
NM_000016.6:c.1148C>T MANE Select	NP_000007.1:p.Thr383Ile
NM_001127328.3:c.1160C>T	NP_001120800.1:p.Thr387Ile
NM_001286042.2:c.1040C>T	NP_001272971.1:p.Thr347Ile
NM_001286043.2:c.1247C>T	NP_001272972.1:p.Thr416Ile
NM_001286044.2:c.581C>T	NP_001272973.1:p.Thr194Ile