Canonical Allele Identifier: CA340816781

Gene: ACADM

Linked Data

• gnomAD v4: 1-75749533-G-T
• MyVariant Identifiers: chr1:g.76215218G>T (hg19) ; chr1:g.75749533G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749533G>T , CM000663.2:g.75749533G>T	GRCh38
NC_000001.10:g.76215218G>T , CM000663.1:g.76215218G>T	GRCh37
NC_000001.9:g.75987806G>T	NCBI36
NG_007045.2:g.30176G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.823G>T MANE Select	ENSP00000359878.5:p.Gly275Ter
ENST00000473018.3:n.2947G>T
ENST00000532207.6:n.1712G>T
ENST00000541113.6:c.823G>T	ENSP00000442324.2:p.Gly275Ter
ENST00000679509.1:n.1785G>T
ENST00000679530.1:c.*591G>T	ENSP00000506454.1:n.*591G>T
ENST00000679615.1:n.2838G>T
ENST00000679687.1:c.385G>T	ENSP00000506598.1:p.Gly129Ter
ENST00000679704.1:c.*589G>T	ENSP00000505117.1:n.*589G>T
ENST00000679709.1:c.*786G>T	ENSP00000506623.1:n.*786G>T
ENST00000679976.1:c.*407G>T	ENSP00000505565.1:n.*407G>T
ENST00000680166.1:n.4112G>T
ENST00000680517.1:c.*211G>T	ENSP00000505803.1:n.*211G>T
ENST00000680582.1:n.1785G>T
ENST00000680613.1:c.*194G>T	ENSP00000506114.1:n.*194G>T
ENST00000680662.1:c.*737G>T	ENSP00000505080.1:n.*737G>T
ENST00000680691.1:c.*486G>T	ENSP00000506487.1:n.*486G>T
ENST00000680694.1:c.*411G>T	ENSP00000505658.1:n.*411G>T
ENST00000680743.1:c.*490G>T	ENSP00000505073.1:n.*490G>T
ENST00000680749.1:c.*108G>T	ENSP00000505122.1:n.*108G>T
ENST00000680798.1:c.*298G>T	ENSP00000505670.1:n.*298G>T
ENST00000680805.1:c.709-918G>T	ENSP00000505447.1:n.709-918G>T
ENST00000680844.1:c.*607G>T	ENSP00000506541.1:n.*607G>T
ENST00000680948.1:c.*690G>T	ENSP00000505441.1:n.*690G>T
ENST00000680964.1:c.823G>T	ENSP00000505961.1:p.Gly275Ter
ENST00000681037.1:c.*2307G>T	ENSP00000506025.1:n.*2307G>T
ENST00000681063.1:c.600-918G>T	ENSP00000506616.1:n.600-918G>T
ENST00000681209.1:c.*478G>T	ENSP00000505877.1:n.*478G>T
ENST00000681278.1:n.1180G>T
ENST00000681289.1:n.4818G>T
ENST00000681361.1:c.*490G>T	ENSP00000506679.1:n.*490G>T
ENST00000681430.1:c.823G>T	ENSP00000506301.1:p.Gly275Ter
ENST00000681446.1:c.*405G>T	ENSP00000506244.1:n.*405G>T
ENST00000681450.1:c.*494G>T	ENSP00000505660.1:n.*494G>T
ENST00000681548.1:c.*409G>T	ENSP00000505275.1:n.*409G>T
ENST00000681616.1:c.*482G>T	ENSP00000505111.1:n.*482G>T
ENST00000681621.1:c.*407G>T	ENSP00000505770.1:n.*407G>T
ENST00000681680.1:n.2918G>T
ENST00000681720.1:c.*278G>T	ENSP00000505438.1:n.*278G>T
ENST00000681730.1:n.1045G>T
ENST00000681790.1:c.565G>T	ENSP00000505130.1:p.Gly189Ter
ENST00000681837.1:n.1439G>T
ENST00000681913.1:n.2947G>T
ENST00000681916.1:c.*591G>T	ENSP00000506477.1:n.*591G>T
ENST00000681930.1:n.2947G>T
ENST00000370834.9:c.922G>T	ENSP00000359871.5:p.Gly308Ter
ENST00000370841.8:c.823G>T	ENSP00000359878.4:p.Gly275Ter
ENST00000420607.6:c.835G>T	ENSP00000409612.2:p.Gly279Ter
ENST00000525808.5:c.*409G>T	ENSP00000434823.1:n.*409G>T
ENST00000526129.5:c.*607G>T	ENSP00000434092.1:n.*607G>T
ENST00000526196.5:c.*591G>T	ENSP00000431953.1:n.*591G>T
ENST00000528016.1:c.37G>T	ENSP00000434284.1:p.Gly13Ter
ENST00000529059.5:n.732G>T
ENST00000530953.6:c.*320G>T	ENSP00000431372.1:n.*320G>T
ENST00000532207.5:n.553G>T
ENST00000532509.5:c.*587G>T	ENSP00000432522.1:n.*587G>T
ENST00000534334.5:c.*407G>T	ENSP00000435584.1:n.*407G>T
ENST00000541113.5:c.715G>T	ENSP00000442324.1:p.Gly239Ter
NM_000016.5:c.823G>T	NP_000007.1:p.Gly275Ter
NM_001127328.2:c.835G>T	NP_001120800.1:p.Gly279Ter
NM_001286042.1:c.715G>T	NP_001272971.1:p.Gly239Ter
NM_001286043.1:c.922G>T	NP_001272972.1:p.Gly308Ter
NM_001286044.1:c.256G>T	NP_001272973.1:p.Gly86Ter
NM_000016.6:c.823G>T MANE Select	NP_000007.1:p.Gly275Ter
NM_001127328.3:c.835G>T	NP_001120800.1:p.Gly279Ter
NM_001286042.2:c.715G>T	NP_001272971.1:p.Gly239Ter
NM_001286043.2:c.922G>T	NP_001272972.1:p.Gly308Ter
NM_001286044.2:c.256G>T	NP_001272973.1:p.Gly86Ter