Canonical Allele Identifier: CA340815440

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76205783G>T (hg19) ; chr1:g.75740098G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740098G>T , CM000663.2:g.75740098G>T	GRCh38
NC_000001.10:g.76205783G>T , CM000663.1:g.76205783G>T	GRCh37
NC_000001.9:g.75978371G>T	NCBI36
NG_007045.2:g.20741G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.587G>T MANE Select	ENSP00000359878.5:p.Gly196Val
ENST00000473018.3:n.2711G>T
ENST00000541113.6:c.587G>T	ENSP00000442324.2:p.Gly196Val
ENST00000679509.1:n.1549G>T
ENST00000679530.1:c.*355G>T	ENSP00000506454.1:n.*355G>T
ENST00000679615.1:n.2711G>T
ENST00000679687.1:c.149G>T	ENSP00000506598.1:p.Gly50Val
ENST00000679704.1:c.*353G>T	ENSP00000505117.1:n.*353G>T
ENST00000679709.1:c.*550G>T	ENSP00000506623.1:n.*550G>T
ENST00000679804.1:n.326G>T
ENST00000679976.1:c.*171G>T	ENSP00000505565.1:n.*171G>T
ENST00000680166.1:n.3876G>T
ENST00000680517.1:c.*84G>T	ENSP00000505803.1:n.*84G>T
ENST00000680582.1:n.1549G>T
ENST00000680613.1:c.587G>T	ENSP00000506114.1:p.Gly196Val
ENST00000680662.1:c.*501G>T	ENSP00000505080.1:n.*501G>T
ENST00000680691.1:c.*250G>T	ENSP00000506487.1:n.*250G>T
ENST00000680694.1:c.*175G>T	ENSP00000505658.1:n.*175G>T
ENST00000680743.1:c.*254G>T	ENSP00000505073.1:n.*254G>T
ENST00000680749.1:c.587G>T	ENSP00000505122.1:p.Gly196Val
ENST00000680798.1:c.*171G>T	ENSP00000505670.1:n.*171G>T
ENST00000680805.1:c.587G>T	ENSP00000505447.1:p.Gly196Val
ENST00000680844.1:c.*371G>T	ENSP00000506541.1:n.*371G>T
ENST00000680948.1:c.*454G>T	ENSP00000505441.1:n.*454G>T
ENST00000680964.1:c.587G>T	ENSP00000505961.1:p.Gly196Val
ENST00000681037.1:c.587G>T	ENSP00000506025.1:p.Gly196Val
ENST00000681063.1:c.587G>T	ENSP00000506616.1:p.Gly196Val
ENST00000681209.1:c.*351G>T	ENSP00000505877.1:n.*351G>T
ENST00000681278.1:n.944G>T
ENST00000681289.1:n.944G>T
ENST00000681361.1:c.*254G>T	ENSP00000506679.1:n.*254G>T
ENST00000681430.1:c.587G>T	ENSP00000506301.1:p.Gly196Val
ENST00000681446.1:c.*169G>T	ENSP00000506244.1:n.*169G>T
ENST00000681450.1:c.*258G>T	ENSP00000505660.1:n.*258G>T
ENST00000681548.1:c.*173G>T	ENSP00000505275.1:n.*173G>T
ENST00000681616.1:c.*355G>T	ENSP00000505111.1:n.*355G>T
ENST00000681621.1:c.*171G>T	ENSP00000505770.1:n.*171G>T
ENST00000681680.1:n.2711G>T
ENST00000681720.1:c.*55-5708G>T	ENSP00000505438.1:n.*55-5708G>T
ENST00000681730.1:n.809G>T
ENST00000681790.1:c.329G>T	ENSP00000505130.1:p.Gly110Val
ENST00000681837.1:n.1203G>T
ENST00000681913.1:n.2711G>T
ENST00000681916.1:c.*355G>T	ENSP00000506477.1:n.*355G>T
ENST00000681930.1:n.2711G>T
ENST00000370834.9:c.686G>T	ENSP00000359871.5:p.Gly229Val
ENST00000370841.8:c.587G>T	ENSP00000359878.4:p.Gly196Val
ENST00000420607.6:c.599G>T	ENSP00000409612.2:p.Gly200Val
ENST00000525808.5:c.*173G>T	ENSP00000434823.1:n.*173G>T
ENST00000526129.5:c.*371G>T	ENSP00000434092.1:n.*371G>T
ENST00000526196.5:c.*355G>T	ENSP00000431953.1:n.*355G>T
ENST00000526930.1:n.360G>T
ENST00000529059.5:n.496G>T
ENST00000530953.6:c.*84G>T	ENSP00000431372.1:n.*84G>T
ENST00000532509.5:c.*351G>T	ENSP00000432522.1:n.*351G>T
ENST00000534334.5:c.*171G>T	ENSP00000435584.1:n.*171G>T
ENST00000541113.5:c.479G>T	ENSP00000442324.1:p.Gly160Val
NM_000016.5:c.587G>T	NP_000007.1:p.Gly196Val
NM_001127328.2:c.599G>T	NP_001120800.1:p.Gly200Val
NM_001286042.1:c.479G>T	NP_001272971.1:p.Gly160Val
NM_001286043.1:c.686G>T	NP_001272972.1:p.Gly229Val
NM_001286044.1:c.20G>T	NP_001272973.1:p.Gly7Val
NM_000016.6:c.587G>T MANE Select	NP_000007.1:p.Gly196Val
NM_001127328.3:c.599G>T	NP_001120800.1:p.Gly200Val
NM_001286042.2:c.479G>T	NP_001272971.1:p.Gly160Val
NM_001286043.2:c.686G>T	NP_001272972.1:p.Gly229Val
NM_001286044.2:c.20G>T	NP_001272973.1:p.Gly7Val