Canonical Allele Identifier: CA340817082

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216187A>T (hg19) ; chr1:g.75750502A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750502A>T , CM000663.2:g.75750502A>T	GRCh38
NC_000001.10:g.76216187A>T , CM000663.1:g.76216187A>T	GRCh37
NC_000001.9:g.75988775A>T	NCBI36
NG_007045.2:g.31145A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.901A>T MANE Select	ENSP00000359878.5:p.Lys301Ter
ENST00000473018.3:n.3025A>T
ENST00000532207.6:n.1790A>T
ENST00000541113.6:c.849+943A>T	ENSP00000442324.2:n.849+943A>T
ENST00000679509.1:n.1863A>T
ENST00000679530.1:c.*669A>T	ENSP00000506454.1:n.*669A>T
ENST00000679615.1:n.2916A>T
ENST00000679687.1:c.463A>T	ENSP00000506598.1:p.Lys155Ter
ENST00000679704.1:c.*667A>T	ENSP00000505117.1:n.*667A>T
ENST00000679709.1:c.*864A>T	ENSP00000506623.1:n.*864A>T
ENST00000679976.1:c.*485A>T	ENSP00000505565.1:n.*485A>T
ENST00000680166.1:n.4190A>T
ENST00000680315.1:n.784A>T
ENST00000680517.1:c.*289A>T	ENSP00000505803.1:n.*289A>T
ENST00000680582.1:n.1863A>T
ENST00000680613.1:c.*272A>T	ENSP00000506114.1:n.*272A>T
ENST00000680662.1:c.*815A>T	ENSP00000505080.1:n.*815A>T
ENST00000680691.1:c.*564A>T	ENSP00000506487.1:n.*564A>T
ENST00000680694.1:c.*489A>T	ENSP00000505658.1:n.*489A>T
ENST00000680743.1:c.*568A>T	ENSP00000505073.1:n.*568A>T
ENST00000680749.1:c.*186A>T	ENSP00000505122.1:n.*186A>T
ENST00000680798.1:c.*376A>T	ENSP00000505670.1:n.*376A>T
ENST00000680805.1:c.760A>T	ENSP00000505447.1:p.Lys254Ter
ENST00000680844.1:c.*685A>T	ENSP00000506541.1:n.*685A>T
ENST00000680948.1:c.*768A>T	ENSP00000505441.1:n.*768A>T
ENST00000680964.1:c.901A>T	ENSP00000505961.1:p.Lys301Ter
ENST00000681037.1:c.*2385A>T	ENSP00000506025.1:n.*2385A>T
ENST00000681063.1:c.*48A>T	ENSP00000506616.1:n.*48A>T
ENST00000681209.1:c.*556A>T	ENSP00000505877.1:n.*556A>T
ENST00000681278.1:n.1258A>T
ENST00000681289.1:n.4896A>T
ENST00000681361.1:c.*568A>T	ENSP00000506679.1:n.*568A>T
ENST00000681430.1:c.901A>T	ENSP00000506301.1:p.Lys301Ter
ENST00000681446.1:c.*483A>T	ENSP00000506244.1:n.*483A>T
ENST00000681450.1:c.*572A>T	ENSP00000505660.1:n.*572A>T
ENST00000681548.1:c.*487A>T	ENSP00000505275.1:n.*487A>T
ENST00000681616.1:c.*560A>T	ENSP00000505111.1:n.*560A>T
ENST00000681621.1:c.*485A>T	ENSP00000505770.1:n.*485A>T
ENST00000681680.1:n.2996A>T
ENST00000681720.1:c.*356A>T	ENSP00000505438.1:n.*356A>T
ENST00000681730.1:n.1123A>T
ENST00000681790.1:c.643A>T	ENSP00000505130.1:p.Lys215Ter
ENST00000681837.1:n.1517A>T
ENST00000681913.1:n.3025A>T
ENST00000681916.1:c.*669A>T	ENSP00000506477.1:n.*669A>T
ENST00000681930.1:n.3025A>T
ENST00000370834.9:c.1000A>T	ENSP00000359871.5:p.Lys334Ter
ENST00000370841.8:c.901A>T	ENSP00000359878.4:p.Lys301Ter
ENST00000420607.6:c.913A>T	ENSP00000409612.2:p.Lys305Ter
ENST00000481374.1:n.52A>T
ENST00000525808.5:c.*487A>T	ENSP00000434823.1:n.*487A>T
ENST00000526129.5:c.*685A>T	ENSP00000434092.1:n.*685A>T
ENST00000526196.5:c.*669A>T	ENSP00000431953.1:n.*669A>T
ENST00000528016.1:c.115A>T	ENSP00000434284.1:p.Lys39Ter
ENST00000529059.5:n.810A>T
ENST00000532207.5:n.631A>T
ENST00000534334.5:c.*485A>T	ENSP00000435584.1:n.*485A>T
ENST00000541113.5:c.793A>T	ENSP00000442324.1:p.Lys265Ter
NM_000016.5:c.901A>T	NP_000007.1:p.Lys301Ter
NM_001127328.2:c.913A>T	NP_001120800.1:p.Lys305Ter
NM_001286042.1:c.793A>T	NP_001272971.1:p.Lys265Ter
NM_001286043.1:c.1000A>T	NP_001272972.1:p.Lys334Ter
NM_001286044.1:c.334A>T	NP_001272973.1:p.Lys112Ter
NM_000016.6:c.901A>T MANE Select	NP_000007.1:p.Lys301Ter
NM_001127328.3:c.913A>T	NP_001120800.1:p.Lys305Ter
NM_001286042.2:c.793A>T	NP_001272971.1:p.Lys265Ter
NM_001286043.2:c.1000A>T	NP_001272972.1:p.Lys334Ter
NM_001286044.2:c.334A>T	NP_001272973.1:p.Lys112Ter