Canonical Allele Identifier: CA24609323

Gene: ACADM

Linked Data

• dbSNP Id: rs144792540
• MyVariant Identifiers: chr1:g.76227021T>C (hg19) ; chr1:g.75761336T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761336T>C , CM000663.2:g.75761336T>C	GRCh38
NC_000001.10:g.76227021T>C , CM000663.1:g.76227021T>C	GRCh37
NC_000001.9:g.75999609T>C	NCBI36
NG_007045.2:g.41979T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1160T>C MANE Select	ENSP00000359878.5:p.Val387Ala
ENST00000473018.3:n.3284T>C
ENST00000532207.6:n.2171T>C
ENST00000541113.6:c.1064T>C	ENSP00000442324.2:p.Val355Ala
ENST00000679509.1:n.2122T>C
ENST00000679530.1:c.*928T>C	ENSP00000506454.1:n.*928T>C
ENST00000679615.1:n.3175T>C
ENST00000679687.1:c.722T>C	ENSP00000506598.1:p.Val241Ala
ENST00000679704.1:c.*926T>C	ENSP00000505117.1:n.*926T>C
ENST00000679709.1:c.*1123T>C	ENSP00000506623.1:n.*1123T>C
ENST00000679976.1:c.*744T>C	ENSP00000505565.1:n.*744T>C
ENST00000680166.1:n.4449T>C
ENST00000680315.1:n.1043T>C
ENST00000680517.1:c.*548T>C	ENSP00000505803.1:n.*548T>C
ENST00000680582.1:n.2122T>C
ENST00000680613.1:c.*653T>C	ENSP00000506114.1:n.*653T>C
ENST00000680662.1:c.*1074T>C	ENSP00000505080.1:n.*1074T>C
ENST00000680691.1:c.*823T>C	ENSP00000506487.1:n.*823T>C
ENST00000680694.1:c.*748T>C	ENSP00000505658.1:n.*748T>C
ENST00000680743.1:c.*949T>C	ENSP00000505073.1:n.*949T>C
ENST00000680749.1:c.*445T>C	ENSP00000505122.1:n.*445T>C
ENST00000680798.1:c.*635T>C	ENSP00000505670.1:n.*635T>C
ENST00000680805.1:c.1019T>C	ENSP00000505447.1:p.Val340Ala
ENST00000680844.1:c.*944T>C	ENSP00000506541.1:n.*944T>C
ENST00000680948.1:c.*1027T>C	ENSP00000505441.1:n.*1027T>C
ENST00000680964.1:c.*253T>C	ENSP00000505961.1:n.*253T>C
ENST00000681037.1:c.*2644T>C	ENSP00000506025.1:n.*2644T>C
ENST00000681063.1:c.*429T>C	ENSP00000506616.1:n.*429T>C
ENST00000681209.1:c.*815T>C	ENSP00000505877.1:n.*815T>C
ENST00000681278.1:n.1862T>C
ENST00000681289.1:n.5155T>C
ENST00000681361.1:c.*827T>C	ENSP00000506679.1:n.*827T>C
ENST00000681430.1:c.*253T>C	ENSP00000506301.1:n.*253T>C
ENST00000681446.1:c.*864T>C	ENSP00000506244.1:n.*864T>C
ENST00000681450.1:c.*831T>C	ENSP00000505660.1:n.*831T>C
ENST00000681548.1:c.*746T>C	ENSP00000505275.1:n.*746T>C
ENST00000681616.1:c.*819T>C	ENSP00000505111.1:n.*819T>C
ENST00000681621.1:c.*744T>C	ENSP00000505770.1:n.*744T>C
ENST00000681680.1:n.3255T>C
ENST00000681720.1:c.*615T>C	ENSP00000505438.1:n.*615T>C
ENST00000681730.1:n.1382T>C
ENST00000681790.1:c.902T>C	ENSP00000505130.1:p.Val301Ala
ENST00000681837.1:n.1776T>C
ENST00000681913.1:n.3406T>C
ENST00000681916.1:c.*928T>C	ENSP00000506477.1:n.*928T>C
ENST00000681930.1:n.3284T>C
ENST00000370834.9:c.1259T>C	ENSP00000359871.5:p.Val420Ala
ENST00000370841.8:c.1160T>C	ENSP00000359878.4:p.Val387Ala
ENST00000420607.6:c.1172T>C	ENSP00000409612.2:p.Val391Ala
ENST00000481374.1:n.433T>C
ENST00000525808.5:c.*746T>C	ENSP00000434823.1:n.*746T>C
ENST00000526129.5:c.*944T>C	ENSP00000434092.1:n.*944T>C
ENST00000526196.5:c.*928T>C	ENSP00000431953.1:n.*928T>C
ENST00000528016.1:c.160-7841T>C	ENSP00000434284.1:n.160-7841T>C
ENST00000529059.5:n.1069T>C
ENST00000541113.5:c.1052T>C	ENSP00000442324.1:p.Val351Ala
NM_000016.5:c.1160T>C	NP_000007.1:p.Val387Ala
NM_001127328.2:c.1172T>C	NP_001120800.1:p.Val391Ala
NM_001286042.1:c.1052T>C	NP_001272971.1:p.Val351Ala
NM_001286043.1:c.1259T>C	NP_001272972.1:p.Val420Ala
NM_001286044.1:c.593T>C	NP_001272973.1:p.Val198Ala
NM_000016.6:c.1160T>C MANE Select	NP_000007.1:p.Val387Ala
NM_001127328.3:c.1172T>C	NP_001120800.1:p.Val391Ala
NM_001286042.2:c.1052T>C	NP_001272971.1:p.Val351Ala
NM_001286043.2:c.1259T>C	NP_001272972.1:p.Val420Ala
NM_001286044.2:c.593T>C	NP_001272973.1:p.Val198Ala