Canonical Allele Identifier: CA418707638

Gene: ACADM

Linked Data

• gnomAD v4: 1-75761247-A-C
• MyVariant Identifiers: chr1:g.76226932A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761247A>C , CM000663.2:g.75761247A>C	GRCh38
NC_000001.10:g.76226932A>C , CM000663.1:g.76226932A>C	GRCh37
NC_000001.9:g.75999520A>C	NCBI36
NG_007045.2:g.41890A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1071A>C MANE Select	ENSP00000359878.5:p.Ala357=
ENST00000473018.3:n.3195A>C
ENST00000532207.6:n.2082A>C
ENST00000541113.6:c.975A>C	ENSP00000442324.2:p.Ala325=
ENST00000679509.1:n.2033A>C
ENST00000679530.1:c.*839A>C	ENSP00000506454.1:n.*839A>C
ENST00000679615.1:n.3086A>C
ENST00000679687.1:c.633A>C	ENSP00000506598.1:p.Ala211=
ENST00000679704.1:c.*837A>C	ENSP00000505117.1:n.*837A>C
ENST00000679709.1:c.*1034A>C	ENSP00000506623.1:n.*1034A>C
ENST00000679976.1:c.*655A>C	ENSP00000505565.1:n.*655A>C
ENST00000680166.1:n.4360A>C
ENST00000680315.1:n.954A>C
ENST00000680517.1:c.*459A>C	ENSP00000505803.1:n.*459A>C
ENST00000680582.1:n.2033A>C
ENST00000680613.1:c.*564A>C	ENSP00000506114.1:n.*564A>C
ENST00000680662.1:c.*985A>C	ENSP00000505080.1:n.*985A>C
ENST00000680691.1:c.*734A>C	ENSP00000506487.1:n.*734A>C
ENST00000680694.1:c.*659A>C	ENSP00000505658.1:n.*659A>C
ENST00000680743.1:c.*860A>C	ENSP00000505073.1:n.*860A>C
ENST00000680749.1:c.*356A>C	ENSP00000505122.1:n.*356A>C
ENST00000680798.1:c.*546A>C	ENSP00000505670.1:n.*546A>C
ENST00000680805.1:c.930A>C	ENSP00000505447.1:p.Ala310=
ENST00000680844.1:c.*855A>C	ENSP00000506541.1:n.*855A>C
ENST00000680948.1:c.*938A>C	ENSP00000505441.1:n.*938A>C
ENST00000680964.1:c.*164A>C	ENSP00000505961.1:n.*164A>C
ENST00000681037.1:c.*2555A>C	ENSP00000506025.1:n.*2555A>C
ENST00000681063.1:c.*340A>C	ENSP00000506616.1:n.*340A>C
ENST00000681209.1:c.*726A>C	ENSP00000505877.1:n.*726A>C
ENST00000681278.1:n.1773A>C
ENST00000681289.1:n.5066A>C
ENST00000681361.1:c.*738A>C	ENSP00000506679.1:n.*738A>C
ENST00000681430.1:c.*164A>C	ENSP00000506301.1:n.*164A>C
ENST00000681446.1:c.*775A>C	ENSP00000506244.1:n.*775A>C
ENST00000681450.1:c.*742A>C	ENSP00000505660.1:n.*742A>C
ENST00000681548.1:c.*657A>C	ENSP00000505275.1:n.*657A>C
ENST00000681616.1:c.*730A>C	ENSP00000505111.1:n.*730A>C
ENST00000681621.1:c.*655A>C	ENSP00000505770.1:n.*655A>C
ENST00000681680.1:n.3166A>C
ENST00000681720.1:c.*526A>C	ENSP00000505438.1:n.*526A>C
ENST00000681730.1:n.1293A>C
ENST00000681790.1:c.813A>C	ENSP00000505130.1:p.Ala271=
ENST00000681837.1:n.1687A>C
ENST00000681913.1:n.3317A>C
ENST00000681916.1:c.*839A>C	ENSP00000506477.1:n.*839A>C
ENST00000681930.1:n.3195A>C
ENST00000370834.9:c.1170A>C	ENSP00000359871.5:p.Ala390=
ENST00000370841.8:c.1071A>C	ENSP00000359878.4:p.Ala357=
ENST00000420607.6:c.1083A>C	ENSP00000409612.2:p.Ala361=
ENST00000481374.1:n.344A>C
ENST00000525808.5:c.*657A>C	ENSP00000434823.1:n.*657A>C
ENST00000526129.5:c.*855A>C	ENSP00000434092.1:n.*855A>C
ENST00000526196.5:c.*839A>C	ENSP00000431953.1:n.*839A>C
ENST00000528016.1:c.160-7930A>C	ENSP00000434284.1:n.160-7930A>C
ENST00000529059.5:n.980A>C
ENST00000534334.5:c.*812A>C	ENSP00000435584.1:n.*812A>C
ENST00000541113.5:c.963A>C	ENSP00000442324.1:p.Ala321=
NM_000016.5:c.1071A>C	NP_000007.1:p.Ala357=
NM_001127328.2:c.1083A>C	NP_001120800.1:p.Ala361=
NM_001286042.1:c.963A>C	NP_001272971.1:p.Ala321=
NM_001286043.1:c.1170A>C	NP_001272972.1:p.Ala390=
NM_001286044.1:c.504A>C	NP_001272973.1:p.Ala168=
NM_000016.6:c.1071A>C MANE Select	NP_000007.1:p.Ala357=
NM_001127328.3:c.1083A>C	NP_001120800.1:p.Ala361=
NM_001286042.2:c.963A>C	NP_001272971.1:p.Ala321=
NM_001286043.2:c.1170A>C	NP_001272972.1:p.Ala390=
NM_001286044.2:c.504A>C	NP_001272973.1:p.Ala168=