Canonical Allele Identifier: CA340816749

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215204T>C (hg19) ; chr1:g.75749519T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749519T>C , CM000663.2:g.75749519T>C	GRCh38
NC_000001.10:g.76215204T>C , CM000663.1:g.76215204T>C	GRCh37
NC_000001.9:g.75987792T>C	NCBI36
NG_007045.2:g.30162T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.809T>C MANE Select	ENSP00000359878.5:p.Phe270Ser
ENST00000473018.3:n.2933T>C
ENST00000532207.6:n.1698T>C
ENST00000541113.6:c.809T>C	ENSP00000442324.2:p.Phe270Ser
ENST00000679509.1:n.1771T>C
ENST00000679530.1:c.*577T>C	ENSP00000506454.1:n.*577T>C
ENST00000679615.1:n.2824T>C
ENST00000679687.1:c.371T>C	ENSP00000506598.1:p.Phe124Ser
ENST00000679704.1:c.*575T>C	ENSP00000505117.1:n.*575T>C
ENST00000679709.1:c.*772T>C	ENSP00000506623.1:n.*772T>C
ENST00000679976.1:c.*393T>C	ENSP00000505565.1:n.*393T>C
ENST00000680166.1:n.4098T>C
ENST00000680517.1:c.*197T>C	ENSP00000505803.1:n.*197T>C
ENST00000680582.1:n.1771T>C
ENST00000680613.1:c.*180T>C	ENSP00000506114.1:n.*180T>C
ENST00000680662.1:c.*723T>C	ENSP00000505080.1:n.*723T>C
ENST00000680691.1:c.*472T>C	ENSP00000506487.1:n.*472T>C
ENST00000680694.1:c.*397T>C	ENSP00000505658.1:n.*397T>C
ENST00000680743.1:c.*476T>C	ENSP00000505073.1:n.*476T>C
ENST00000680749.1:c.*94T>C	ENSP00000505122.1:n.*94T>C
ENST00000680798.1:c.*284T>C	ENSP00000505670.1:n.*284T>C
ENST00000680805.1:c.709-932T>C	ENSP00000505447.1:n.709-932T>C
ENST00000680844.1:c.*593T>C	ENSP00000506541.1:n.*593T>C
ENST00000680948.1:c.*676T>C	ENSP00000505441.1:n.*676T>C
ENST00000680964.1:c.809T>C	ENSP00000505961.1:p.Phe270Ser
ENST00000681037.1:c.*2293T>C	ENSP00000506025.1:n.*2293T>C
ENST00000681063.1:c.600-932T>C	ENSP00000506616.1:n.600-932T>C
ENST00000681209.1:c.*464T>C	ENSP00000505877.1:n.*464T>C
ENST00000681278.1:n.1166T>C
ENST00000681289.1:n.4804T>C
ENST00000681361.1:c.*476T>C	ENSP00000506679.1:n.*476T>C
ENST00000681430.1:c.809T>C	ENSP00000506301.1:p.Phe270Ser
ENST00000681446.1:c.*391T>C	ENSP00000506244.1:n.*391T>C
ENST00000681450.1:c.*480T>C	ENSP00000505660.1:n.*480T>C
ENST00000681548.1:c.*395T>C	ENSP00000505275.1:n.*395T>C
ENST00000681616.1:c.*468T>C	ENSP00000505111.1:n.*468T>C
ENST00000681621.1:c.*393T>C	ENSP00000505770.1:n.*393T>C
ENST00000681680.1:n.2904T>C
ENST00000681720.1:c.*264T>C	ENSP00000505438.1:n.*264T>C
ENST00000681730.1:n.1031T>C
ENST00000681790.1:c.551T>C	ENSP00000505130.1:p.Phe184Ser
ENST00000681837.1:n.1425T>C
ENST00000681913.1:n.2933T>C
ENST00000681916.1:c.*577T>C	ENSP00000506477.1:n.*577T>C
ENST00000681930.1:n.2933T>C
ENST00000370834.9:c.908T>C	ENSP00000359871.5:p.Phe303Ser
ENST00000370841.8:c.809T>C	ENSP00000359878.4:p.Phe270Ser
ENST00000420607.6:c.821T>C	ENSP00000409612.2:p.Phe274Ser
ENST00000525808.5:c.*395T>C	ENSP00000434823.1:n.*395T>C
ENST00000526129.5:c.*593T>C	ENSP00000434092.1:n.*593T>C
ENST00000526196.5:c.*577T>C	ENSP00000431953.1:n.*577T>C
ENST00000528016.1:c.23T>C	ENSP00000434284.1:p.Phe8Ser
ENST00000529059.5:n.718T>C
ENST00000530953.6:c.*306T>C	ENSP00000431372.1:n.*306T>C
ENST00000532207.5:n.539T>C
ENST00000532509.5:c.*573T>C	ENSP00000432522.1:n.*573T>C
ENST00000534334.5:c.*393T>C	ENSP00000435584.1:n.*393T>C
ENST00000541113.5:c.701T>C	ENSP00000442324.1:p.Phe234Ser
NM_000016.5:c.809T>C	NP_000007.1:p.Phe270Ser
NM_001127328.2:c.821T>C	NP_001120800.1:p.Phe274Ser
NM_001286042.1:c.701T>C	NP_001272971.1:p.Phe234Ser
NM_001286043.1:c.908T>C	NP_001272972.1:p.Phe303Ser
NM_001286044.1:c.242T>C	NP_001272973.1:p.Phe81Ser
NM_000016.6:c.809T>C MANE Select	NP_000007.1:p.Phe270Ser
NM_001127328.3:c.821T>C	NP_001120800.1:p.Phe274Ser
NM_001286042.2:c.701T>C	NP_001272971.1:p.Phe234Ser
NM_001286043.2:c.908T>C	NP_001272972.1:p.Phe303Ser
NM_001286044.2:c.242T>C	NP_001272973.1:p.Phe81Ser