Canonical Allele Identifier: CA340818209

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1071806
• ClinVar RCV Id: RCV001384348
• dbSNP Id: rs2100453612
• MyVariant Identifiers: chr1:g.76226981C>T (hg19) ; chr1:g.75761296C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761296C>T , CM000663.2:g.75761296C>T	GRCh38
NC_000001.10:g.76226981C>T , CM000663.1:g.76226981C>T	GRCh37
NC_000001.9:g.75999569C>T	NCBI36
NG_007045.2:g.41939C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1120C>T MANE Select	ENSP00000359878.5:p.Gln374Ter
ENST00000473018.3:n.3244C>T
ENST00000532207.6:n.2131C>T
ENST00000541113.6:c.1024C>T	ENSP00000442324.2:p.Gln342Ter
ENST00000679509.1:n.2082C>T
ENST00000679530.1:c.*888C>T	ENSP00000506454.1:n.*888C>T
ENST00000679615.1:n.3135C>T
ENST00000679687.1:c.682C>T	ENSP00000506598.1:p.Gln228Ter
ENST00000679704.1:c.*886C>T	ENSP00000505117.1:n.*886C>T
ENST00000679709.1:c.*1083C>T	ENSP00000506623.1:n.*1083C>T
ENST00000679976.1:c.*704C>T	ENSP00000505565.1:n.*704C>T
ENST00000680166.1:n.4409C>T
ENST00000680315.1:n.1003C>T
ENST00000680517.1:c.*508C>T	ENSP00000505803.1:n.*508C>T
ENST00000680582.1:n.2082C>T
ENST00000680613.1:c.*613C>T	ENSP00000506114.1:n.*613C>T
ENST00000680662.1:c.*1034C>T	ENSP00000505080.1:n.*1034C>T
ENST00000680691.1:c.*783C>T	ENSP00000506487.1:n.*783C>T
ENST00000680694.1:c.*708C>T	ENSP00000505658.1:n.*708C>T
ENST00000680743.1:c.*909C>T	ENSP00000505073.1:n.*909C>T
ENST00000680749.1:c.*405C>T	ENSP00000505122.1:n.*405C>T
ENST00000680798.1:c.*595C>T	ENSP00000505670.1:n.*595C>T
ENST00000680805.1:c.979C>T	ENSP00000505447.1:p.Gln327Ter
ENST00000680844.1:c.*904C>T	ENSP00000506541.1:n.*904C>T
ENST00000680948.1:c.*987C>T	ENSP00000505441.1:n.*987C>T
ENST00000680964.1:c.*213C>T	ENSP00000505961.1:n.*213C>T
ENST00000681037.1:c.*2604C>T	ENSP00000506025.1:n.*2604C>T
ENST00000681063.1:c.*389C>T	ENSP00000506616.1:n.*389C>T
ENST00000681209.1:c.*775C>T	ENSP00000505877.1:n.*775C>T
ENST00000681278.1:n.1822C>T
ENST00000681289.1:n.5115C>T
ENST00000681361.1:c.*787C>T	ENSP00000506679.1:n.*787C>T
ENST00000681430.1:c.*213C>T	ENSP00000506301.1:n.*213C>T
ENST00000681446.1:c.*824C>T	ENSP00000506244.1:n.*824C>T
ENST00000681450.1:c.*791C>T	ENSP00000505660.1:n.*791C>T
ENST00000681548.1:c.*706C>T	ENSP00000505275.1:n.*706C>T
ENST00000681616.1:c.*779C>T	ENSP00000505111.1:n.*779C>T
ENST00000681621.1:c.*704C>T	ENSP00000505770.1:n.*704C>T
ENST00000681680.1:n.3215C>T
ENST00000681720.1:c.*575C>T	ENSP00000505438.1:n.*575C>T
ENST00000681730.1:n.1342C>T
ENST00000681790.1:c.862C>T	ENSP00000505130.1:p.Gln288Ter
ENST00000681837.1:n.1736C>T
ENST00000681913.1:n.3366C>T
ENST00000681916.1:c.*888C>T	ENSP00000506477.1:n.*888C>T
ENST00000681930.1:n.3244C>T
ENST00000370834.9:c.1219C>T	ENSP00000359871.5:p.Gln407Ter
ENST00000370841.8:c.1120C>T	ENSP00000359878.4:p.Gln374Ter
ENST00000420607.6:c.1132C>T	ENSP00000409612.2:p.Gln378Ter
ENST00000481374.1:n.393C>T
ENST00000525808.5:c.*706C>T	ENSP00000434823.1:n.*706C>T
ENST00000526129.5:c.*904C>T	ENSP00000434092.1:n.*904C>T
ENST00000526196.5:c.*888C>T	ENSP00000431953.1:n.*888C>T
ENST00000528016.1:c.160-7881C>T	ENSP00000434284.1:n.160-7881C>T
ENST00000529059.5:n.1029C>T
ENST00000541113.5:c.1012C>T	ENSP00000442324.1:p.Gln338Ter
NM_000016.5:c.1120C>T	NP_000007.1:p.Gln374Ter
NM_001127328.2:c.1132C>T	NP_001120800.1:p.Gln378Ter
NM_001286042.1:c.1012C>T	NP_001272971.1:p.Gln338Ter
NM_001286043.1:c.1219C>T	NP_001272972.1:p.Gln407Ter
NM_001286044.1:c.553C>T	NP_001272973.1:p.Gln185Ter
NM_000016.6:c.1120C>T MANE Select	NP_000007.1:p.Gln374Ter
NM_001127328.3:c.1132C>T	NP_001120800.1:p.Gln378Ter
NM_001286042.2:c.1012C>T	NP_001272971.1:p.Gln338Ter
NM_001286043.2:c.1219C>T	NP_001272972.1:p.Gln407Ter
NM_001286044.2:c.553C>T	NP_001272973.1:p.Gln185Ter