Canonical Allele Identifier: CA340818029

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226894G>T (hg19) ; chr1:g.75761209G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761209G>T , CM000663.2:g.75761209G>T	GRCh38
NC_000001.10:g.76226894G>T , CM000663.1:g.76226894G>T	GRCh37
NC_000001.9:g.75999482G>T	NCBI36
NG_007045.2:g.41852G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1033G>T MANE Select	ENSP00000359878.5:p.Asp345Tyr
ENST00000473018.3:n.3157G>T
ENST00000532207.6:n.2044G>T
ENST00000541113.6:c.937G>T	ENSP00000442324.2:p.Asp313Tyr
ENST00000679509.1:n.1995G>T
ENST00000679530.1:c.*801G>T	ENSP00000506454.1:n.*801G>T
ENST00000679615.1:n.3048G>T
ENST00000679687.1:c.595G>T	ENSP00000506598.1:p.Asp199Tyr
ENST00000679704.1:c.*799G>T	ENSP00000505117.1:n.*799G>T
ENST00000679709.1:c.*996G>T	ENSP00000506623.1:n.*996G>T
ENST00000679976.1:c.*617G>T	ENSP00000505565.1:n.*617G>T
ENST00000680166.1:n.4322G>T
ENST00000680315.1:n.916G>T
ENST00000680517.1:c.*421G>T	ENSP00000505803.1:n.*421G>T
ENST00000680582.1:n.1995G>T
ENST00000680613.1:c.*526G>T	ENSP00000506114.1:n.*526G>T
ENST00000680662.1:c.*947G>T	ENSP00000505080.1:n.*947G>T
ENST00000680691.1:c.*696G>T	ENSP00000506487.1:n.*696G>T
ENST00000680694.1:c.*621G>T	ENSP00000505658.1:n.*621G>T
ENST00000680743.1:c.*822G>T	ENSP00000505073.1:n.*822G>T
ENST00000680749.1:c.*318G>T	ENSP00000505122.1:n.*318G>T
ENST00000680798.1:c.*508G>T	ENSP00000505670.1:n.*508G>T
ENST00000680805.1:c.892G>T	ENSP00000505447.1:p.Asp298Tyr
ENST00000680844.1:c.*817G>T	ENSP00000506541.1:n.*817G>T
ENST00000680948.1:c.*900G>T	ENSP00000505441.1:n.*900G>T
ENST00000680964.1:c.*126G>T	ENSP00000505961.1:n.*126G>T
ENST00000681037.1:c.*2517G>T	ENSP00000506025.1:n.*2517G>T
ENST00000681063.1:c.*302G>T	ENSP00000506616.1:n.*302G>T
ENST00000681209.1:c.*688G>T	ENSP00000505877.1:n.*688G>T
ENST00000681278.1:n.1735G>T
ENST00000681289.1:n.5028G>T
ENST00000681361.1:c.*700G>T	ENSP00000506679.1:n.*700G>T
ENST00000681430.1:c.*126G>T	ENSP00000506301.1:n.*126G>T
ENST00000681446.1:c.*737G>T	ENSP00000506244.1:n.*737G>T
ENST00000681450.1:c.*704G>T	ENSP00000505660.1:n.*704G>T
ENST00000681548.1:c.*619G>T	ENSP00000505275.1:n.*619G>T
ENST00000681616.1:c.*692G>T	ENSP00000505111.1:n.*692G>T
ENST00000681621.1:c.*617G>T	ENSP00000505770.1:n.*617G>T
ENST00000681680.1:n.3128G>T
ENST00000681720.1:c.*488G>T	ENSP00000505438.1:n.*488G>T
ENST00000681730.1:n.1255G>T
ENST00000681790.1:c.775G>T	ENSP00000505130.1:p.Asp259Tyr
ENST00000681837.1:n.1649G>T
ENST00000681913.1:n.3279G>T
ENST00000681916.1:c.*801G>T	ENSP00000506477.1:n.*801G>T
ENST00000681930.1:n.3157G>T
ENST00000370834.9:c.1132G>T	ENSP00000359871.5:p.Asp378Tyr
ENST00000370841.8:c.1033G>T	ENSP00000359878.4:p.Asp345Tyr
ENST00000420607.6:c.1045G>T	ENSP00000409612.2:p.Asp349Tyr
ENST00000481374.1:n.306G>T
ENST00000525808.5:c.*619G>T	ENSP00000434823.1:n.*619G>T
ENST00000526129.5:c.*817G>T	ENSP00000434092.1:n.*817G>T
ENST00000526196.5:c.*801G>T	ENSP00000431953.1:n.*801G>T
ENST00000528016.1:c.160-7968G>T	ENSP00000434284.1:n.160-7968G>T
ENST00000529059.5:n.942G>T
ENST00000534334.5:c.*774G>T	ENSP00000435584.1:n.*774G>T
ENST00000541113.5:c.925G>T	ENSP00000442324.1:p.Asp309Tyr
NM_000016.5:c.1033G>T	NP_000007.1:p.Asp345Tyr
NM_001127328.2:c.1045G>T	NP_001120800.1:p.Asp349Tyr
NM_001286042.1:c.925G>T	NP_001272971.1:p.Asp309Tyr
NM_001286043.1:c.1132G>T	NP_001272972.1:p.Asp378Tyr
NM_001286044.1:c.466G>T	NP_001272973.1:p.Asp156Tyr
NM_000016.6:c.1033G>T MANE Select	NP_000007.1:p.Asp345Tyr
NM_001127328.3:c.1045G>T	NP_001120800.1:p.Asp349Tyr
NM_001286042.2:c.925G>T	NP_001272971.1:p.Asp309Tyr
NM_001286043.2:c.1132G>T	NP_001272972.1:p.Asp378Tyr
NM_001286044.2:c.466G>T	NP_001272973.1:p.Asp156Tyr