Canonical Allele Identifier: CA340818090

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226924T>C (hg19) ; chr1:g.75761239T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761239T>C , CM000663.2:g.75761239T>C	GRCh38
NC_000001.10:g.76226924T>C , CM000663.1:g.76226924T>C	GRCh37
NC_000001.9:g.75999512T>C	NCBI36
NG_007045.2:g.41882T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1063T>C MANE Select	ENSP00000359878.5:p.Ser355Pro
ENST00000473018.3:n.3187T>C
ENST00000532207.6:n.2074T>C
ENST00000541113.6:c.967T>C	ENSP00000442324.2:p.Ser323Pro
ENST00000679509.1:n.2025T>C
ENST00000679530.1:c.*831T>C	ENSP00000506454.1:n.*831T>C
ENST00000679615.1:n.3078T>C
ENST00000679687.1:c.625T>C	ENSP00000506598.1:p.Ser209Pro
ENST00000679704.1:c.*829T>C	ENSP00000505117.1:n.*829T>C
ENST00000679709.1:c.*1026T>C	ENSP00000506623.1:n.*1026T>C
ENST00000679976.1:c.*647T>C	ENSP00000505565.1:n.*647T>C
ENST00000680166.1:n.4352T>C
ENST00000680315.1:n.946T>C
ENST00000680517.1:c.*451T>C	ENSP00000505803.1:n.*451T>C
ENST00000680582.1:n.2025T>C
ENST00000680613.1:c.*556T>C	ENSP00000506114.1:n.*556T>C
ENST00000680662.1:c.*977T>C	ENSP00000505080.1:n.*977T>C
ENST00000680691.1:c.*726T>C	ENSP00000506487.1:n.*726T>C
ENST00000680694.1:c.*651T>C	ENSP00000505658.1:n.*651T>C
ENST00000680743.1:c.*852T>C	ENSP00000505073.1:n.*852T>C
ENST00000680749.1:c.*348T>C	ENSP00000505122.1:n.*348T>C
ENST00000680798.1:c.*538T>C	ENSP00000505670.1:n.*538T>C
ENST00000680805.1:c.922T>C	ENSP00000505447.1:p.Ser308Pro
ENST00000680844.1:c.*847T>C	ENSP00000506541.1:n.*847T>C
ENST00000680948.1:c.*930T>C	ENSP00000505441.1:n.*930T>C
ENST00000680964.1:c.*156T>C	ENSP00000505961.1:n.*156T>C
ENST00000681037.1:c.*2547T>C	ENSP00000506025.1:n.*2547T>C
ENST00000681063.1:c.*332T>C	ENSP00000506616.1:n.*332T>C
ENST00000681209.1:c.*718T>C	ENSP00000505877.1:n.*718T>C
ENST00000681278.1:n.1765T>C
ENST00000681289.1:n.5058T>C
ENST00000681361.1:c.*730T>C	ENSP00000506679.1:n.*730T>C
ENST00000681430.1:c.*156T>C	ENSP00000506301.1:n.*156T>C
ENST00000681446.1:c.*767T>C	ENSP00000506244.1:n.*767T>C
ENST00000681450.1:c.*734T>C	ENSP00000505660.1:n.*734T>C
ENST00000681548.1:c.*649T>C	ENSP00000505275.1:n.*649T>C
ENST00000681616.1:c.*722T>C	ENSP00000505111.1:n.*722T>C
ENST00000681621.1:c.*647T>C	ENSP00000505770.1:n.*647T>C
ENST00000681680.1:n.3158T>C
ENST00000681720.1:c.*518T>C	ENSP00000505438.1:n.*518T>C
ENST00000681730.1:n.1285T>C
ENST00000681790.1:c.805T>C	ENSP00000505130.1:p.Ser269Pro
ENST00000681837.1:n.1679T>C
ENST00000681913.1:n.3309T>C
ENST00000681916.1:c.*831T>C	ENSP00000506477.1:n.*831T>C
ENST00000681930.1:n.3187T>C
ENST00000370834.9:c.1162T>C	ENSP00000359871.5:p.Ser388Pro
ENST00000370841.8:c.1063T>C	ENSP00000359878.4:p.Ser355Pro
ENST00000420607.6:c.1075T>C	ENSP00000409612.2:p.Ser359Pro
ENST00000481374.1:n.336T>C
ENST00000525808.5:c.*649T>C	ENSP00000434823.1:n.*649T>C
ENST00000526129.5:c.*847T>C	ENSP00000434092.1:n.*847T>C
ENST00000526196.5:c.*831T>C	ENSP00000431953.1:n.*831T>C
ENST00000528016.1:c.160-7938T>C	ENSP00000434284.1:n.160-7938T>C
ENST00000529059.5:n.972T>C
ENST00000534334.5:c.*804T>C	ENSP00000435584.1:n.*804T>C
ENST00000541113.5:c.955T>C	ENSP00000442324.1:p.Ser319Pro
NM_000016.5:c.1063T>C	NP_000007.1:p.Ser355Pro
NM_001127328.2:c.1075T>C	NP_001120800.1:p.Ser359Pro
NM_001286042.1:c.955T>C	NP_001272971.1:p.Ser319Pro
NM_001286043.1:c.1162T>C	NP_001272972.1:p.Ser388Pro
NM_001286044.1:c.496T>C	NP_001272973.1:p.Ser166Pro
NM_000016.6:c.1063T>C MANE Select	NP_000007.1:p.Ser355Pro
NM_001127328.3:c.1075T>C	NP_001120800.1:p.Ser359Pro
NM_001286042.2:c.955T>C	NP_001272971.1:p.Ser319Pro
NM_001286043.2:c.1162T>C	NP_001272972.1:p.Ser388Pro
NM_001286044.2:c.496T>C	NP_001272973.1:p.Ser166Pro