Canonical Allele Identifier: CA10603792

Gene: ACADM

Linked Data

• ClinVar Variation Id: 281047
• ClinVar RCV Id: RCV000285147
• dbSNP Id: rs886042085
• MyVariant Identifiers: chr1:g.76216224T>C (hg19) ; chr1:g.75750539T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750539T>C , CM000663.2:g.75750539T>C	GRCh38
NC_000001.10:g.76216224T>C , CM000663.1:g.76216224T>C	GRCh37
NC_000001.9:g.75988812T>C	NCBI36
NG_007045.2:g.31182T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.938T>C MANE Select	ENSP00000359878.5:p.Leu313Pro
ENST00000473018.3:n.3062T>C
ENST00000532207.6:n.1827T>C
ENST00000541113.6:c.849+980T>C	ENSP00000442324.2:n.849+980T>C
ENST00000679509.1:n.1900T>C
ENST00000679530.1:c.*706T>C	ENSP00000506454.1:n.*706T>C
ENST00000679615.1:n.2953T>C
ENST00000679687.1:c.500T>C	ENSP00000506598.1:p.Leu167Pro
ENST00000679704.1:c.*704T>C	ENSP00000505117.1:n.*704T>C
ENST00000679709.1:c.*901T>C	ENSP00000506623.1:n.*901T>C
ENST00000679976.1:c.*522T>C	ENSP00000505565.1:n.*522T>C
ENST00000680166.1:n.4227T>C
ENST00000680315.1:n.821T>C
ENST00000680517.1:c.*326T>C	ENSP00000505803.1:n.*326T>C
ENST00000680582.1:n.1900T>C
ENST00000680613.1:c.*309T>C	ENSP00000506114.1:n.*309T>C
ENST00000680662.1:c.*852T>C	ENSP00000505080.1:n.*852T>C
ENST00000680691.1:c.*601T>C	ENSP00000506487.1:n.*601T>C
ENST00000680694.1:c.*526T>C	ENSP00000505658.1:n.*526T>C
ENST00000680743.1:c.*605T>C	ENSP00000505073.1:n.*605T>C
ENST00000680749.1:c.*223T>C	ENSP00000505122.1:n.*223T>C
ENST00000680798.1:c.*413T>C	ENSP00000505670.1:n.*413T>C
ENST00000680805.1:c.797T>C	ENSP00000505447.1:p.Leu266Pro
ENST00000680844.1:c.*722T>C	ENSP00000506541.1:n.*722T>C
ENST00000680948.1:c.*805T>C	ENSP00000505441.1:n.*805T>C
ENST00000680964.1:c.938T>C	ENSP00000505961.1:p.Leu313Pro
ENST00000681037.1:c.*2422T>C	ENSP00000506025.1:n.*2422T>C
ENST00000681063.1:c.*85T>C	ENSP00000506616.1:n.*85T>C
ENST00000681209.1:c.*593T>C	ENSP00000505877.1:n.*593T>C
ENST00000681278.1:n.1295T>C
ENST00000681289.1:n.4933T>C
ENST00000681361.1:c.*605T>C	ENSP00000506679.1:n.*605T>C
ENST00000681430.1:c.938T>C	ENSP00000506301.1:p.Leu313Pro
ENST00000681446.1:c.*520T>C	ENSP00000506244.1:n.*520T>C
ENST00000681450.1:c.*609T>C	ENSP00000505660.1:n.*609T>C
ENST00000681548.1:c.*524T>C	ENSP00000505275.1:n.*524T>C
ENST00000681616.1:c.*597T>C	ENSP00000505111.1:n.*597T>C
ENST00000681621.1:c.*522T>C	ENSP00000505770.1:n.*522T>C
ENST00000681680.1:n.3033T>C
ENST00000681720.1:c.*393T>C	ENSP00000505438.1:n.*393T>C
ENST00000681730.1:n.1160T>C
ENST00000681790.1:c.680T>C	ENSP00000505130.1:p.Leu227Pro
ENST00000681837.1:n.1554T>C
ENST00000681913.1:n.3062T>C
ENST00000681916.1:c.*706T>C	ENSP00000506477.1:n.*706T>C
ENST00000681930.1:n.3062T>C
ENST00000370834.9:c.1037T>C	ENSP00000359871.5:p.Leu346Pro
ENST00000370841.8:c.938T>C	ENSP00000359878.4:p.Leu313Pro
ENST00000420607.6:c.950T>C	ENSP00000409612.2:p.Leu317Pro
ENST00000481374.1:n.89T>C
ENST00000525808.5:c.*524T>C	ENSP00000434823.1:n.*524T>C
ENST00000526129.5:c.*722T>C	ENSP00000434092.1:n.*722T>C
ENST00000526196.5:c.*706T>C	ENSP00000431953.1:n.*706T>C
ENST00000528016.1:c.152T>C	ENSP00000434284.1:p.Leu51Pro
ENST00000529059.5:n.847T>C
ENST00000532207.5:n.668T>C
ENST00000534334.5:c.*522T>C	ENSP00000435584.1:n.*522T>C
ENST00000541113.5:c.830T>C	ENSP00000442324.1:p.Leu277Pro
NM_000016.5:c.938T>C	NP_000007.1:p.Leu313Pro
NM_001127328.2:c.950T>C	NP_001120800.1:p.Leu317Pro
NM_001286042.1:c.830T>C	NP_001272971.1:p.Leu277Pro
NM_001286043.1:c.1037T>C	NP_001272972.1:p.Leu346Pro
NM_001286044.1:c.371T>C	NP_001272973.1:p.Leu124Pro
NM_000016.6:c.938T>C MANE Select	NP_000007.1:p.Leu313Pro
NM_001127328.3:c.950T>C	NP_001120800.1:p.Leu317Pro
NM_001286042.2:c.830T>C	NP_001272971.1:p.Leu277Pro
NM_001286043.2:c.1037T>C	NP_001272972.1:p.Leu346Pro
NM_001286044.2:c.371T>C	NP_001272973.1:p.Leu124Pro