Canonical Allele Identifier: CA340818113

Gene: ACADM

Linked Data

• COSMIC: COSM5557993 ; COSM5557994
• MyVariant Identifiers: chr1:g.76226935G>T (hg19) ; chr1:g.75761250G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761250G>T , CM000663.2:g.75761250G>T	GRCh38
NC_000001.10:g.76226935G>T , CM000663.1:g.76226935G>T	GRCh37
NC_000001.9:g.75999523G>T	NCBI36
NG_007045.2:g.41893G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1074G>T MANE Select	ENSP00000359878.5:p.Lys358Asn
ENST00000473018.3:n.3198G>T
ENST00000532207.6:n.2085G>T
ENST00000541113.6:c.978G>T	ENSP00000442324.2:p.Lys326Asn
ENST00000679509.1:n.2036G>T
ENST00000679530.1:c.*842G>T	ENSP00000506454.1:n.*842G>T
ENST00000679615.1:n.3089G>T
ENST00000679687.1:c.636G>T	ENSP00000506598.1:p.Lys212Asn
ENST00000679704.1:c.*840G>T	ENSP00000505117.1:n.*840G>T
ENST00000679709.1:c.*1037G>T	ENSP00000506623.1:n.*1037G>T
ENST00000679976.1:c.*658G>T	ENSP00000505565.1:n.*658G>T
ENST00000680166.1:n.4363G>T
ENST00000680315.1:n.957G>T
ENST00000680517.1:c.*462G>T	ENSP00000505803.1:n.*462G>T
ENST00000680582.1:n.2036G>T
ENST00000680613.1:c.*567G>T	ENSP00000506114.1:n.*567G>T
ENST00000680662.1:c.*988G>T	ENSP00000505080.1:n.*988G>T
ENST00000680691.1:c.*737G>T	ENSP00000506487.1:n.*737G>T
ENST00000680694.1:c.*662G>T	ENSP00000505658.1:n.*662G>T
ENST00000680743.1:c.*863G>T	ENSP00000505073.1:n.*863G>T
ENST00000680749.1:c.*359G>T	ENSP00000505122.1:n.*359G>T
ENST00000680798.1:c.*549G>T	ENSP00000505670.1:n.*549G>T
ENST00000680805.1:c.933G>T	ENSP00000505447.1:p.Lys311Asn
ENST00000680844.1:c.*858G>T	ENSP00000506541.1:n.*858G>T
ENST00000680948.1:c.*941G>T	ENSP00000505441.1:n.*941G>T
ENST00000680964.1:c.*167G>T	ENSP00000505961.1:n.*167G>T
ENST00000681037.1:c.*2558G>T	ENSP00000506025.1:n.*2558G>T
ENST00000681063.1:c.*343G>T	ENSP00000506616.1:n.*343G>T
ENST00000681209.1:c.*729G>T	ENSP00000505877.1:n.*729G>T
ENST00000681278.1:n.1776G>T
ENST00000681289.1:n.5069G>T
ENST00000681361.1:c.*741G>T	ENSP00000506679.1:n.*741G>T
ENST00000681430.1:c.*167G>T	ENSP00000506301.1:n.*167G>T
ENST00000681446.1:c.*778G>T	ENSP00000506244.1:n.*778G>T
ENST00000681450.1:c.*745G>T	ENSP00000505660.1:n.*745G>T
ENST00000681548.1:c.*660G>T	ENSP00000505275.1:n.*660G>T
ENST00000681616.1:c.*733G>T	ENSP00000505111.1:n.*733G>T
ENST00000681621.1:c.*658G>T	ENSP00000505770.1:n.*658G>T
ENST00000681680.1:n.3169G>T
ENST00000681720.1:c.*529G>T	ENSP00000505438.1:n.*529G>T
ENST00000681730.1:n.1296G>T
ENST00000681790.1:c.816G>T	ENSP00000505130.1:p.Lys272Asn
ENST00000681837.1:n.1690G>T
ENST00000681913.1:n.3320G>T
ENST00000681916.1:c.*842G>T	ENSP00000506477.1:n.*842G>T
ENST00000681930.1:n.3198G>T
ENST00000370834.9:c.1173G>T	ENSP00000359871.5:p.Lys391Asn
ENST00000370841.8:c.1074G>T	ENSP00000359878.4:p.Lys358Asn
ENST00000420607.6:c.1086G>T	ENSP00000409612.2:p.Lys362Asn
ENST00000481374.1:n.347G>T
ENST00000525808.5:c.*660G>T	ENSP00000434823.1:n.*660G>T
ENST00000526129.5:c.*858G>T	ENSP00000434092.1:n.*858G>T
ENST00000526196.5:c.*842G>T	ENSP00000431953.1:n.*842G>T
ENST00000528016.1:c.160-7927G>T	ENSP00000434284.1:n.160-7927G>T
ENST00000529059.5:n.983G>T
ENST00000541113.5:c.966G>T	ENSP00000442324.1:p.Lys322Asn
NM_000016.5:c.1074G>T	NP_000007.1:p.Lys358Asn
NM_001127328.2:c.1086G>T	NP_001120800.1:p.Lys362Asn
NM_001286042.1:c.966G>T	NP_001272971.1:p.Lys322Asn
NM_001286043.1:c.1173G>T	NP_001272972.1:p.Lys391Asn
NM_001286044.1:c.507G>T	NP_001272973.1:p.Lys169Asn
NM_000016.6:c.1074G>T MANE Select	NP_000007.1:p.Lys358Asn
NM_001127328.3:c.1086G>T	NP_001120800.1:p.Lys362Asn
NM_001286042.2:c.966G>T	NP_001272971.1:p.Lys322Asn
NM_001286043.2:c.1173G>T	NP_001272972.1:p.Lys391Asn
NM_001286044.2:c.507G>T	NP_001272973.1:p.Lys169Asn