Canonical Allele Identifier: CA340818197

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226974T>G (hg19) ; chr1:g.75761289T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761289T>G , CM000663.2:g.75761289T>G	GRCh38
NC_000001.10:g.76226974T>G , CM000663.1:g.76226974T>G	GRCh37
NC_000001.9:g.75999562T>G	NCBI36
NG_007045.2:g.41932T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1113T>G MANE Select	ENSP00000359878.5:p.Asp371Glu
ENST00000473018.3:n.3237T>G
ENST00000532207.6:n.2124T>G
ENST00000541113.6:c.1017T>G	ENSP00000442324.2:p.Asp339Glu
ENST00000679509.1:n.2075T>G
ENST00000679530.1:c.*881T>G	ENSP00000506454.1:n.*881T>G
ENST00000679615.1:n.3128T>G
ENST00000679687.1:c.675T>G	ENSP00000506598.1:p.Asp225Glu
ENST00000679704.1:c.*879T>G	ENSP00000505117.1:n.*879T>G
ENST00000679709.1:c.*1076T>G	ENSP00000506623.1:n.*1076T>G
ENST00000679976.1:c.*697T>G	ENSP00000505565.1:n.*697T>G
ENST00000680166.1:n.4402T>G
ENST00000680315.1:n.996T>G
ENST00000680517.1:c.*501T>G	ENSP00000505803.1:n.*501T>G
ENST00000680582.1:n.2075T>G
ENST00000680613.1:c.*606T>G	ENSP00000506114.1:n.*606T>G
ENST00000680662.1:c.*1027T>G	ENSP00000505080.1:n.*1027T>G
ENST00000680691.1:c.*776T>G	ENSP00000506487.1:n.*776T>G
ENST00000680694.1:c.*701T>G	ENSP00000505658.1:n.*701T>G
ENST00000680743.1:c.*902T>G	ENSP00000505073.1:n.*902T>G
ENST00000680749.1:c.*398T>G	ENSP00000505122.1:n.*398T>G
ENST00000680798.1:c.*588T>G	ENSP00000505670.1:n.*588T>G
ENST00000680805.1:c.972T>G	ENSP00000505447.1:p.Asp324Glu
ENST00000680844.1:c.*897T>G	ENSP00000506541.1:n.*897T>G
ENST00000680948.1:c.*980T>G	ENSP00000505441.1:n.*980T>G
ENST00000680964.1:c.*206T>G	ENSP00000505961.1:n.*206T>G
ENST00000681037.1:c.*2597T>G	ENSP00000506025.1:n.*2597T>G
ENST00000681063.1:c.*382T>G	ENSP00000506616.1:n.*382T>G
ENST00000681209.1:c.*768T>G	ENSP00000505877.1:n.*768T>G
ENST00000681278.1:n.1815T>G
ENST00000681289.1:n.5108T>G
ENST00000681361.1:c.*780T>G	ENSP00000506679.1:n.*780T>G
ENST00000681430.1:c.*206T>G	ENSP00000506301.1:n.*206T>G
ENST00000681446.1:c.*817T>G	ENSP00000506244.1:n.*817T>G
ENST00000681450.1:c.*784T>G	ENSP00000505660.1:n.*784T>G
ENST00000681548.1:c.*699T>G	ENSP00000505275.1:n.*699T>G
ENST00000681616.1:c.*772T>G	ENSP00000505111.1:n.*772T>G
ENST00000681621.1:c.*697T>G	ENSP00000505770.1:n.*697T>G
ENST00000681680.1:n.3208T>G
ENST00000681720.1:c.*568T>G	ENSP00000505438.1:n.*568T>G
ENST00000681730.1:n.1335T>G
ENST00000681790.1:c.855T>G	ENSP00000505130.1:p.Asp285Glu
ENST00000681837.1:n.1729T>G
ENST00000681913.1:n.3359T>G
ENST00000681916.1:c.*881T>G	ENSP00000506477.1:n.*881T>G
ENST00000681930.1:n.3237T>G
ENST00000370834.9:c.1212T>G	ENSP00000359871.5:p.Asp404Glu
ENST00000370841.8:c.1113T>G	ENSP00000359878.4:p.Asp371Glu
ENST00000420607.6:c.1125T>G	ENSP00000409612.2:p.Asp375Glu
ENST00000481374.1:n.386T>G
ENST00000525808.5:c.*699T>G	ENSP00000434823.1:n.*699T>G
ENST00000526129.5:c.*897T>G	ENSP00000434092.1:n.*897T>G
ENST00000526196.5:c.*881T>G	ENSP00000431953.1:n.*881T>G
ENST00000528016.1:c.160-7888T>G	ENSP00000434284.1:n.160-7888T>G
ENST00000529059.5:n.1022T>G
ENST00000541113.5:c.1005T>G	ENSP00000442324.1:p.Asp335Glu
NM_000016.5:c.1113T>G	NP_000007.1:p.Asp371Glu
NM_001127328.2:c.1125T>G	NP_001120800.1:p.Asp375Glu
NM_001286042.1:c.1005T>G	NP_001272971.1:p.Asp335Glu
NM_001286043.1:c.1212T>G	NP_001272972.1:p.Asp404Glu
NM_001286044.1:c.546T>G	NP_001272973.1:p.Asp182Glu
NM_000016.6:c.1113T>G MANE Select	NP_000007.1:p.Asp371Glu
NM_001127328.3:c.1125T>G	NP_001120800.1:p.Asp375Glu
NM_001286042.2:c.1005T>G	NP_001272971.1:p.Asp335Glu
NM_001286043.2:c.1212T>G	NP_001272972.1:p.Asp404Glu
NM_001286044.2:c.546T>G	NP_001272973.1:p.Asp182Glu