Canonical Allele Identifier: CA340818250

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227000G>T (hg19) ; chr1:g.75761315G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761315G>T , CM000663.2:g.75761315G>T	GRCh38
NC_000001.10:g.76227000G>T , CM000663.1:g.76227000G>T	GRCh37
NC_000001.9:g.75999588G>T	NCBI36
NG_007045.2:g.41958G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1139G>T MANE Select	ENSP00000359878.5:p.Gly380Val
ENST00000473018.3:n.3263G>T
ENST00000532207.6:n.2150G>T
ENST00000541113.6:c.1043G>T	ENSP00000442324.2:p.Gly348Val
ENST00000679509.1:n.2101G>T
ENST00000679530.1:c.*907G>T	ENSP00000506454.1:n.*907G>T
ENST00000679615.1:n.3154G>T
ENST00000679687.1:c.701G>T	ENSP00000506598.1:p.Gly234Val
ENST00000679704.1:c.*905G>T	ENSP00000505117.1:n.*905G>T
ENST00000679709.1:c.*1102G>T	ENSP00000506623.1:n.*1102G>T
ENST00000679976.1:c.*723G>T	ENSP00000505565.1:n.*723G>T
ENST00000680166.1:n.4428G>T
ENST00000680315.1:n.1022G>T
ENST00000680517.1:c.*527G>T	ENSP00000505803.1:n.*527G>T
ENST00000680582.1:n.2101G>T
ENST00000680613.1:c.*632G>T	ENSP00000506114.1:n.*632G>T
ENST00000680662.1:c.*1053G>T	ENSP00000505080.1:n.*1053G>T
ENST00000680691.1:c.*802G>T	ENSP00000506487.1:n.*802G>T
ENST00000680694.1:c.*727G>T	ENSP00000505658.1:n.*727G>T
ENST00000680743.1:c.*928G>T	ENSP00000505073.1:n.*928G>T
ENST00000680749.1:c.*424G>T	ENSP00000505122.1:n.*424G>T
ENST00000680798.1:c.*614G>T	ENSP00000505670.1:n.*614G>T
ENST00000680805.1:c.998G>T	ENSP00000505447.1:p.Gly333Val
ENST00000680844.1:c.*923G>T	ENSP00000506541.1:n.*923G>T
ENST00000680948.1:c.*1006G>T	ENSP00000505441.1:n.*1006G>T
ENST00000680964.1:c.*232G>T	ENSP00000505961.1:n.*232G>T
ENST00000681037.1:c.*2623G>T	ENSP00000506025.1:n.*2623G>T
ENST00000681063.1:c.*408G>T	ENSP00000506616.1:n.*408G>T
ENST00000681209.1:c.*794G>T	ENSP00000505877.1:n.*794G>T
ENST00000681278.1:n.1841G>T
ENST00000681289.1:n.5134G>T
ENST00000681361.1:c.*806G>T	ENSP00000506679.1:n.*806G>T
ENST00000681430.1:c.*232G>T	ENSP00000506301.1:n.*232G>T
ENST00000681446.1:c.*843G>T	ENSP00000506244.1:n.*843G>T
ENST00000681450.1:c.*810G>T	ENSP00000505660.1:n.*810G>T
ENST00000681548.1:c.*725G>T	ENSP00000505275.1:n.*725G>T
ENST00000681616.1:c.*798G>T	ENSP00000505111.1:n.*798G>T
ENST00000681621.1:c.*723G>T	ENSP00000505770.1:n.*723G>T
ENST00000681680.1:n.3234G>T
ENST00000681720.1:c.*594G>T	ENSP00000505438.1:n.*594G>T
ENST00000681730.1:n.1361G>T
ENST00000681790.1:c.881G>T	ENSP00000505130.1:p.Gly294Val
ENST00000681837.1:n.1755G>T
ENST00000681913.1:n.3385G>T
ENST00000681916.1:c.*907G>T	ENSP00000506477.1:n.*907G>T
ENST00000681930.1:n.3263G>T
ENST00000370834.9:c.1238G>T	ENSP00000359871.5:p.Gly413Val
ENST00000370841.8:c.1139G>T	ENSP00000359878.4:p.Gly380Val
ENST00000420607.6:c.1151G>T	ENSP00000409612.2:p.Gly384Val
ENST00000481374.1:n.412G>T
ENST00000525808.5:c.*725G>T	ENSP00000434823.1:n.*725G>T
ENST00000526129.5:c.*923G>T	ENSP00000434092.1:n.*923G>T
ENST00000526196.5:c.*907G>T	ENSP00000431953.1:n.*907G>T
ENST00000528016.1:c.160-7862G>T	ENSP00000434284.1:n.160-7862G>T
ENST00000529059.5:n.1048G>T
ENST00000541113.5:c.1031G>T	ENSP00000442324.1:p.Gly344Val
NM_000016.5:c.1139G>T	NP_000007.1:p.Gly380Val
NM_001127328.2:c.1151G>T	NP_001120800.1:p.Gly384Val
NM_001286042.1:c.1031G>T	NP_001272971.1:p.Gly344Val
NM_001286043.1:c.1238G>T	NP_001272972.1:p.Gly413Val
NM_001286044.1:c.572G>T	NP_001272973.1:p.Gly191Val
NM_000016.6:c.1139G>T MANE Select	NP_000007.1:p.Gly380Val
NM_001127328.3:c.1151G>T	NP_001120800.1:p.Gly384Val
NM_001286042.2:c.1031G>T	NP_001272971.1:p.Gly344Val
NM_001286043.2:c.1238G>T	NP_001272972.1:p.Gly413Val
NM_001286044.2:c.572G>T	NP_001272973.1:p.Gly191Val