Canonical Allele Identifier: CA913281

Gene: ACADM

Linked Data

• dbSNP Id: rs772137588
• ExAC: 1:76227017 C / A
• gnomAD v2: 1-76227017-C-A
• gnomAD v4: 1-75761332-C-A
• MyVariant Identifiers: chr1:g.76227017C>A (hg19) ; chr1:g.75761332C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761332C>A , CM000663.2:g.75761332C>A	GRCh38
NC_000001.10:g.76227017C>A , CM000663.1:g.76227017C>A	GRCh37
NC_000001.9:g.75999605C>A	NCBI36
NG_007045.2:g.41975C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1156C>A MANE Select	ENSP00000359878.5:p.Pro386Thr
ENST00000473018.3:n.3280C>A
ENST00000532207.6:n.2167C>A
ENST00000541113.6:c.1060C>A	ENSP00000442324.2:p.Pro354Thr
ENST00000679509.1:n.2118C>A
ENST00000679530.1:c.*924C>A	ENSP00000506454.1:n.*924C>A
ENST00000679615.1:n.3171C>A
ENST00000679687.1:c.718C>A	ENSP00000506598.1:p.Pro240Thr
ENST00000679704.1:c.*922C>A	ENSP00000505117.1:n.*922C>A
ENST00000679709.1:c.*1119C>A	ENSP00000506623.1:n.*1119C>A
ENST00000679976.1:c.*740C>A	ENSP00000505565.1:n.*740C>A
ENST00000680166.1:n.4445C>A
ENST00000680315.1:n.1039C>A
ENST00000680517.1:c.*544C>A	ENSP00000505803.1:n.*544C>A
ENST00000680582.1:n.2118C>A
ENST00000680613.1:c.*649C>A	ENSP00000506114.1:n.*649C>A
ENST00000680662.1:c.*1070C>A	ENSP00000505080.1:n.*1070C>A
ENST00000680691.1:c.*819C>A	ENSP00000506487.1:n.*819C>A
ENST00000680694.1:c.*744C>A	ENSP00000505658.1:n.*744C>A
ENST00000680743.1:c.*945C>A	ENSP00000505073.1:n.*945C>A
ENST00000680749.1:c.*441C>A	ENSP00000505122.1:n.*441C>A
ENST00000680798.1:c.*631C>A	ENSP00000505670.1:n.*631C>A
ENST00000680805.1:c.1015C>A	ENSP00000505447.1:p.Pro339Thr
ENST00000680844.1:c.*940C>A	ENSP00000506541.1:n.*940C>A
ENST00000680948.1:c.*1023C>A	ENSP00000505441.1:n.*1023C>A
ENST00000680964.1:c.*249C>A	ENSP00000505961.1:n.*249C>A
ENST00000681037.1:c.*2640C>A	ENSP00000506025.1:n.*2640C>A
ENST00000681063.1:c.*425C>A	ENSP00000506616.1:n.*425C>A
ENST00000681209.1:c.*811C>A	ENSP00000505877.1:n.*811C>A
ENST00000681278.1:n.1858C>A
ENST00000681289.1:n.5151C>A
ENST00000681361.1:c.*823C>A	ENSP00000506679.1:n.*823C>A
ENST00000681430.1:c.*249C>A	ENSP00000506301.1:n.*249C>A
ENST00000681446.1:c.*860C>A	ENSP00000506244.1:n.*860C>A
ENST00000681450.1:c.*827C>A	ENSP00000505660.1:n.*827C>A
ENST00000681548.1:c.*742C>A	ENSP00000505275.1:n.*742C>A
ENST00000681616.1:c.*815C>A	ENSP00000505111.1:n.*815C>A
ENST00000681621.1:c.*740C>A	ENSP00000505770.1:n.*740C>A
ENST00000681680.1:n.3251C>A
ENST00000681720.1:c.*611C>A	ENSP00000505438.1:n.*611C>A
ENST00000681730.1:n.1378C>A
ENST00000681790.1:c.898C>A	ENSP00000505130.1:p.Pro300Thr
ENST00000681837.1:n.1772C>A
ENST00000681913.1:n.3402C>A
ENST00000681916.1:c.*924C>A	ENSP00000506477.1:n.*924C>A
ENST00000681930.1:n.3280C>A
ENST00000370834.9:c.1255C>A	ENSP00000359871.5:p.Pro419Thr
ENST00000370841.8:c.1156C>A	ENSP00000359878.4:p.Pro386Thr
ENST00000420607.6:c.1168C>A	ENSP00000409612.2:p.Pro390Thr
ENST00000481374.1:n.429C>A
ENST00000525808.5:c.*742C>A	ENSP00000434823.1:n.*742C>A
ENST00000526129.5:c.*940C>A	ENSP00000434092.1:n.*940C>A
ENST00000526196.5:c.*924C>A	ENSP00000431953.1:n.*924C>A
ENST00000528016.1:c.160-7845C>A	ENSP00000434284.1:n.160-7845C>A
ENST00000529059.5:n.1065C>A
ENST00000541113.5:c.1048C>A	ENSP00000442324.1:p.Pro350Thr
NM_000016.5:c.1156C>A	NP_000007.1:p.Pro386Thr
NM_001127328.2:c.1168C>A	NP_001120800.1:p.Pro390Thr
NM_001286042.1:c.1048C>A	NP_001272971.1:p.Pro350Thr
NM_001286043.1:c.1255C>A	NP_001272972.1:p.Pro419Thr
NM_001286044.1:c.589C>A	NP_001272973.1:p.Pro197Thr
NM_000016.6:c.1156C>A MANE Select	NP_000007.1:p.Pro386Thr
NM_001127328.3:c.1168C>A	NP_001120800.1:p.Pro390Thr
NM_001286042.2:c.1048C>A	NP_001272971.1:p.Pro350Thr
NM_001286043.2:c.1255C>A	NP_001272972.1:p.Pro419Thr
NM_001286044.2:c.589C>A	NP_001272973.1:p.Pro197Thr