Canonical Allele Identifier: CA340818236

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226994G>T (hg19) ; chr1:g.75761309G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761309G>T , CM000663.2:g.75761309G>T	GRCh38
NC_000001.10:g.76226994G>T , CM000663.1:g.76226994G>T	GRCh37
NC_000001.9:g.75999582G>T	NCBI36
NG_007045.2:g.41952G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1133G>T MANE Select	ENSP00000359878.5:p.Gly378Val
ENST00000473018.3:n.3257G>T
ENST00000532207.6:n.2144G>T
ENST00000541113.6:c.1037G>T	ENSP00000442324.2:p.Gly346Val
ENST00000679509.1:n.2095G>T
ENST00000679530.1:c.*901G>T	ENSP00000506454.1:n.*901G>T
ENST00000679615.1:n.3148G>T
ENST00000679687.1:c.695G>T	ENSP00000506598.1:p.Gly232Val
ENST00000679704.1:c.*899G>T	ENSP00000505117.1:n.*899G>T
ENST00000679709.1:c.*1096G>T	ENSP00000506623.1:n.*1096G>T
ENST00000679976.1:c.*717G>T	ENSP00000505565.1:n.*717G>T
ENST00000680166.1:n.4422G>T
ENST00000680315.1:n.1016G>T
ENST00000680517.1:c.*521G>T	ENSP00000505803.1:n.*521G>T
ENST00000680582.1:n.2095G>T
ENST00000680613.1:c.*626G>T	ENSP00000506114.1:n.*626G>T
ENST00000680662.1:c.*1047G>T	ENSP00000505080.1:n.*1047G>T
ENST00000680691.1:c.*796G>T	ENSP00000506487.1:n.*796G>T
ENST00000680694.1:c.*721G>T	ENSP00000505658.1:n.*721G>T
ENST00000680743.1:c.*922G>T	ENSP00000505073.1:n.*922G>T
ENST00000680749.1:c.*418G>T	ENSP00000505122.1:n.*418G>T
ENST00000680798.1:c.*608G>T	ENSP00000505670.1:n.*608G>T
ENST00000680805.1:c.992G>T	ENSP00000505447.1:p.Gly331Val
ENST00000680844.1:c.*917G>T	ENSP00000506541.1:n.*917G>T
ENST00000680948.1:c.*1000G>T	ENSP00000505441.1:n.*1000G>T
ENST00000680964.1:c.*226G>T	ENSP00000505961.1:n.*226G>T
ENST00000681037.1:c.*2617G>T	ENSP00000506025.1:n.*2617G>T
ENST00000681063.1:c.*402G>T	ENSP00000506616.1:n.*402G>T
ENST00000681209.1:c.*788G>T	ENSP00000505877.1:n.*788G>T
ENST00000681278.1:n.1835G>T
ENST00000681289.1:n.5128G>T
ENST00000681361.1:c.*800G>T	ENSP00000506679.1:n.*800G>T
ENST00000681430.1:c.*226G>T	ENSP00000506301.1:n.*226G>T
ENST00000681446.1:c.*837G>T	ENSP00000506244.1:n.*837G>T
ENST00000681450.1:c.*804G>T	ENSP00000505660.1:n.*804G>T
ENST00000681548.1:c.*719G>T	ENSP00000505275.1:n.*719G>T
ENST00000681616.1:c.*792G>T	ENSP00000505111.1:n.*792G>T
ENST00000681621.1:c.*717G>T	ENSP00000505770.1:n.*717G>T
ENST00000681680.1:n.3228G>T
ENST00000681720.1:c.*588G>T	ENSP00000505438.1:n.*588G>T
ENST00000681730.1:n.1355G>T
ENST00000681790.1:c.875G>T	ENSP00000505130.1:p.Gly292Val
ENST00000681837.1:n.1749G>T
ENST00000681913.1:n.3379G>T
ENST00000681916.1:c.*901G>T	ENSP00000506477.1:n.*901G>T
ENST00000681930.1:n.3257G>T
ENST00000370834.9:c.1232G>T	ENSP00000359871.5:p.Gly411Val
ENST00000370841.8:c.1133G>T	ENSP00000359878.4:p.Gly378Val
ENST00000420607.6:c.1145G>T	ENSP00000409612.2:p.Gly382Val
ENST00000481374.1:n.406G>T
ENST00000525808.5:c.*719G>T	ENSP00000434823.1:n.*719G>T
ENST00000526129.5:c.*917G>T	ENSP00000434092.1:n.*917G>T
ENST00000526196.5:c.*901G>T	ENSP00000431953.1:n.*901G>T
ENST00000528016.1:c.160-7868G>T	ENSP00000434284.1:n.160-7868G>T
ENST00000529059.5:n.1042G>T
ENST00000541113.5:c.1025G>T	ENSP00000442324.1:p.Gly342Val
NM_000016.5:c.1133G>T	NP_000007.1:p.Gly378Val
NM_001127328.2:c.1145G>T	NP_001120800.1:p.Gly382Val
NM_001286042.1:c.1025G>T	NP_001272971.1:p.Gly342Val
NM_001286043.1:c.1232G>T	NP_001272972.1:p.Gly411Val
NM_001286044.1:c.566G>T	NP_001272973.1:p.Gly189Val
NM_000016.6:c.1133G>T MANE Select	NP_000007.1:p.Gly378Val
NM_001127328.3:c.1145G>T	NP_001120800.1:p.Gly382Val
NM_001286042.2:c.1025G>T	NP_001272971.1:p.Gly342Val
NM_001286043.2:c.1232G>T	NP_001272972.1:p.Gly411Val
NM_001286044.2:c.566G>T	NP_001272973.1:p.Gly189Val