Canonical Allele Identifier: CA340818176

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1195911
• ClinVar RCV Id: RCV001559197
• dbSNP Id: rs2100453501
• MyVariant Identifiers: chr1:g.76226964T>C (hg19) ; chr1:g.75761279T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761279T>C , CM000663.2:g.75761279T>C	GRCh38
NC_000001.10:g.76226964T>C , CM000663.1:g.76226964T>C	GRCh37
NC_000001.9:g.75999552T>C	NCBI36
NG_007045.2:g.41922T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1103T>C MANE Select	ENSP00000359878.5:p.Leu368Ser
ENST00000473018.3:n.3227T>C
ENST00000532207.6:n.2114T>C
ENST00000541113.6:c.1007T>C	ENSP00000442324.2:p.Leu336Ser
ENST00000679509.1:n.2065T>C
ENST00000679530.1:c.*871T>C	ENSP00000506454.1:n.*871T>C
ENST00000679615.1:n.3118T>C
ENST00000679687.1:c.665T>C	ENSP00000506598.1:p.Leu222Ser
ENST00000679704.1:c.*869T>C	ENSP00000505117.1:n.*869T>C
ENST00000679709.1:c.*1066T>C	ENSP00000506623.1:n.*1066T>C
ENST00000679976.1:c.*687T>C	ENSP00000505565.1:n.*687T>C
ENST00000680166.1:n.4392T>C
ENST00000680315.1:n.986T>C
ENST00000680517.1:c.*491T>C	ENSP00000505803.1:n.*491T>C
ENST00000680582.1:n.2065T>C
ENST00000680613.1:c.*596T>C	ENSP00000506114.1:n.*596T>C
ENST00000680662.1:c.*1017T>C	ENSP00000505080.1:n.*1017T>C
ENST00000680691.1:c.*766T>C	ENSP00000506487.1:n.*766T>C
ENST00000680694.1:c.*691T>C	ENSP00000505658.1:n.*691T>C
ENST00000680743.1:c.*892T>C	ENSP00000505073.1:n.*892T>C
ENST00000680749.1:c.*388T>C	ENSP00000505122.1:n.*388T>C
ENST00000680798.1:c.*578T>C	ENSP00000505670.1:n.*578T>C
ENST00000680805.1:c.962T>C	ENSP00000505447.1:p.Leu321Ser
ENST00000680844.1:c.*887T>C	ENSP00000506541.1:n.*887T>C
ENST00000680948.1:c.*970T>C	ENSP00000505441.1:n.*970T>C
ENST00000680964.1:c.*196T>C	ENSP00000505961.1:n.*196T>C
ENST00000681037.1:c.*2587T>C	ENSP00000506025.1:n.*2587T>C
ENST00000681063.1:c.*372T>C	ENSP00000506616.1:n.*372T>C
ENST00000681209.1:c.*758T>C	ENSP00000505877.1:n.*758T>C
ENST00000681278.1:n.1805T>C
ENST00000681289.1:n.5098T>C
ENST00000681361.1:c.*770T>C	ENSP00000506679.1:n.*770T>C
ENST00000681430.1:c.*196T>C	ENSP00000506301.1:n.*196T>C
ENST00000681446.1:c.*807T>C	ENSP00000506244.1:n.*807T>C
ENST00000681450.1:c.*774T>C	ENSP00000505660.1:n.*774T>C
ENST00000681548.1:c.*689T>C	ENSP00000505275.1:n.*689T>C
ENST00000681616.1:c.*762T>C	ENSP00000505111.1:n.*762T>C
ENST00000681621.1:c.*687T>C	ENSP00000505770.1:n.*687T>C
ENST00000681680.1:n.3198T>C
ENST00000681720.1:c.*558T>C	ENSP00000505438.1:n.*558T>C
ENST00000681730.1:n.1325T>C
ENST00000681790.1:c.845T>C	ENSP00000505130.1:p.Leu282Ser
ENST00000681837.1:n.1719T>C
ENST00000681913.1:n.3349T>C
ENST00000681916.1:c.*871T>C	ENSP00000506477.1:n.*871T>C
ENST00000681930.1:n.3227T>C
ENST00000370834.9:c.1202T>C	ENSP00000359871.5:p.Leu401Ser
ENST00000370841.8:c.1103T>C	ENSP00000359878.4:p.Leu368Ser
ENST00000420607.6:c.1115T>C	ENSP00000409612.2:p.Leu372Ser
ENST00000481374.1:n.376T>C
ENST00000525808.5:c.*689T>C	ENSP00000434823.1:n.*689T>C
ENST00000526129.5:c.*887T>C	ENSP00000434092.1:n.*887T>C
ENST00000526196.5:c.*871T>C	ENSP00000431953.1:n.*871T>C
ENST00000528016.1:c.160-7898T>C	ENSP00000434284.1:n.160-7898T>C
ENST00000529059.5:n.1012T>C
ENST00000541113.5:c.995T>C	ENSP00000442324.1:p.Leu332Ser
NM_000016.5:c.1103T>C	NP_000007.1:p.Leu368Ser
NM_001127328.2:c.1115T>C	NP_001120800.1:p.Leu372Ser
NM_001286042.1:c.995T>C	NP_001272971.1:p.Leu332Ser
NM_001286043.1:c.1202T>C	NP_001272972.1:p.Leu401Ser
NM_001286044.1:c.536T>C	NP_001272973.1:p.Leu179Ser
NM_000016.6:c.1103T>C MANE Select	NP_000007.1:p.Leu368Ser
NM_001127328.3:c.1115T>C	NP_001120800.1:p.Leu372Ser
NM_001286042.2:c.995T>C	NP_001272971.1:p.Leu332Ser
NM_001286043.2:c.1202T>C	NP_001272972.1:p.Leu401Ser
NM_001286044.2:c.536T>C	NP_001272973.1:p.Leu179Ser