Canonical Allele Identifier: CA418707577

Gene: ACADM

Linked Data

• gnomAD v4: 1-75761214-T-C
• MyVariant Identifiers: chr1:g.76226899T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761214T>C , CM000663.2:g.75761214T>C	GRCh38
NC_000001.10:g.76226899T>C , CM000663.1:g.76226899T>C	GRCh37
NC_000001.9:g.75999487T>C	NCBI36
NG_007045.2:g.41857T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1038T>C MANE Select	ENSP00000359878.5:p.Ser346=
ENST00000473018.3:n.3162T>C
ENST00000532207.6:n.2049T>C
ENST00000541113.6:c.942T>C	ENSP00000442324.2:p.Ser314=
ENST00000679509.1:n.2000T>C
ENST00000679530.1:c.*806T>C	ENSP00000506454.1:n.*806T>C
ENST00000679615.1:n.3053T>C
ENST00000679687.1:c.600T>C	ENSP00000506598.1:p.Ser200=
ENST00000679704.1:c.*804T>C	ENSP00000505117.1:n.*804T>C
ENST00000679709.1:c.*1001T>C	ENSP00000506623.1:n.*1001T>C
ENST00000679976.1:c.*622T>C	ENSP00000505565.1:n.*622T>C
ENST00000680166.1:n.4327T>C
ENST00000680315.1:n.921T>C
ENST00000680517.1:c.*426T>C	ENSP00000505803.1:n.*426T>C
ENST00000680582.1:n.2000T>C
ENST00000680613.1:c.*531T>C	ENSP00000506114.1:n.*531T>C
ENST00000680662.1:c.*952T>C	ENSP00000505080.1:n.*952T>C
ENST00000680691.1:c.*701T>C	ENSP00000506487.1:n.*701T>C
ENST00000680694.1:c.*626T>C	ENSP00000505658.1:n.*626T>C
ENST00000680743.1:c.*827T>C	ENSP00000505073.1:n.*827T>C
ENST00000680749.1:c.*323T>C	ENSP00000505122.1:n.*323T>C
ENST00000680798.1:c.*513T>C	ENSP00000505670.1:n.*513T>C
ENST00000680805.1:c.897T>C	ENSP00000505447.1:p.Ser299=
ENST00000680844.1:c.*822T>C	ENSP00000506541.1:n.*822T>C
ENST00000680948.1:c.*905T>C	ENSP00000505441.1:n.*905T>C
ENST00000680964.1:c.*131T>C	ENSP00000505961.1:n.*131T>C
ENST00000681037.1:c.*2522T>C	ENSP00000506025.1:n.*2522T>C
ENST00000681063.1:c.*307T>C	ENSP00000506616.1:n.*307T>C
ENST00000681209.1:c.*693T>C	ENSP00000505877.1:n.*693T>C
ENST00000681278.1:n.1740T>C
ENST00000681289.1:n.5033T>C
ENST00000681361.1:c.*705T>C	ENSP00000506679.1:n.*705T>C
ENST00000681430.1:c.*131T>C	ENSP00000506301.1:n.*131T>C
ENST00000681446.1:c.*742T>C	ENSP00000506244.1:n.*742T>C
ENST00000681450.1:c.*709T>C	ENSP00000505660.1:n.*709T>C
ENST00000681548.1:c.*624T>C	ENSP00000505275.1:n.*624T>C
ENST00000681616.1:c.*697T>C	ENSP00000505111.1:n.*697T>C
ENST00000681621.1:c.*622T>C	ENSP00000505770.1:n.*622T>C
ENST00000681680.1:n.3133T>C
ENST00000681720.1:c.*493T>C	ENSP00000505438.1:n.*493T>C
ENST00000681730.1:n.1260T>C
ENST00000681790.1:c.780T>C	ENSP00000505130.1:p.Ser260=
ENST00000681837.1:n.1654T>C
ENST00000681913.1:n.3284T>C
ENST00000681916.1:c.*806T>C	ENSP00000506477.1:n.*806T>C
ENST00000681930.1:n.3162T>C
ENST00000370834.9:c.1137T>C	ENSP00000359871.5:p.Ser379=
ENST00000370841.8:c.1038T>C	ENSP00000359878.4:p.Ser346=
ENST00000420607.6:c.1050T>C	ENSP00000409612.2:p.Ser350=
ENST00000481374.1:n.311T>C
ENST00000525808.5:c.*624T>C	ENSP00000434823.1:n.*624T>C
ENST00000526129.5:c.*822T>C	ENSP00000434092.1:n.*822T>C
ENST00000526196.5:c.*806T>C	ENSP00000431953.1:n.*806T>C
ENST00000528016.1:c.160-7963T>C	ENSP00000434284.1:n.160-7963T>C
ENST00000529059.5:n.947T>C
ENST00000534334.5:c.*779T>C	ENSP00000435584.1:n.*779T>C
ENST00000541113.5:c.930T>C	ENSP00000442324.1:p.Ser310=
NM_000016.5:c.1038T>C	NP_000007.1:p.Ser346=
NM_001127328.2:c.1050T>C	NP_001120800.1:p.Ser350=
NM_001286042.1:c.930T>C	NP_001272971.1:p.Ser310=
NM_001286043.1:c.1137T>C	NP_001272972.1:p.Ser379=
NM_001286044.1:c.471T>C	NP_001272973.1:p.Ser157=
NM_000016.6:c.1038T>C MANE Select	NP_000007.1:p.Ser346=
NM_001127328.3:c.1050T>C	NP_001120800.1:p.Ser350=
NM_001286042.2:c.930T>C	NP_001272971.1:p.Ser310=
NM_001286043.2:c.1137T>C	NP_001272972.1:p.Ser379=
NM_001286044.2:c.471T>C	NP_001272973.1:p.Ser157=