Canonical Allele Identifier: CA340817982

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1453773
• ClinVar RCV Id: RCV001941537
• dbSNP Id: rs2100452915
• MyVariant Identifiers: chr1:g.76226872C>A (hg19) ; chr1:g.75761187C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761187C>A , CM000663.2:g.75761187C>A	GRCh38
NC_000001.10:g.76226872C>A , CM000663.1:g.76226872C>A	GRCh37
NC_000001.9:g.75999460C>A	NCBI36
NG_007045.2:g.41830C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1011C>A MANE Select	ENSP00000359878.5:p.Tyr337Ter
ENST00000473018.3:n.3135C>A
ENST00000532207.6:n.2022C>A
ENST00000541113.6:c.915C>A	ENSP00000442324.2:p.Tyr305Ter
ENST00000679509.1:n.1973C>A
ENST00000679530.1:c.*779C>A	ENSP00000506454.1:n.*779C>A
ENST00000679615.1:n.3026C>A
ENST00000679687.1:c.573C>A	ENSP00000506598.1:p.Tyr191Ter
ENST00000679704.1:c.*777C>A	ENSP00000505117.1:n.*777C>A
ENST00000679709.1:c.*974C>A	ENSP00000506623.1:n.*974C>A
ENST00000679976.1:c.*595C>A	ENSP00000505565.1:n.*595C>A
ENST00000680166.1:n.4300C>A
ENST00000680315.1:n.894C>A
ENST00000680517.1:c.*399C>A	ENSP00000505803.1:n.*399C>A
ENST00000680582.1:n.1973C>A
ENST00000680613.1:c.*504C>A	ENSP00000506114.1:n.*504C>A
ENST00000680662.1:c.*925C>A	ENSP00000505080.1:n.*925C>A
ENST00000680691.1:c.*674C>A	ENSP00000506487.1:n.*674C>A
ENST00000680694.1:c.*599C>A	ENSP00000505658.1:n.*599C>A
ENST00000680743.1:c.*800C>A	ENSP00000505073.1:n.*800C>A
ENST00000680749.1:c.*296C>A	ENSP00000505122.1:n.*296C>A
ENST00000680798.1:c.*486C>A	ENSP00000505670.1:n.*486C>A
ENST00000680805.1:c.870C>A	ENSP00000505447.1:p.Tyr290Ter
ENST00000680844.1:c.*795C>A	ENSP00000506541.1:n.*795C>A
ENST00000680948.1:c.*878C>A	ENSP00000505441.1:n.*878C>A
ENST00000680964.1:c.*104C>A	ENSP00000505961.1:n.*104C>A
ENST00000681037.1:c.*2495C>A	ENSP00000506025.1:n.*2495C>A
ENST00000681063.1:c.*280C>A	ENSP00000506616.1:n.*280C>A
ENST00000681209.1:c.*666C>A	ENSP00000505877.1:n.*666C>A
ENST00000681278.1:n.1713C>A
ENST00000681289.1:n.5006C>A
ENST00000681361.1:c.*678C>A	ENSP00000506679.1:n.*678C>A
ENST00000681430.1:c.*104C>A	ENSP00000506301.1:n.*104C>A
ENST00000681446.1:c.*715C>A	ENSP00000506244.1:n.*715C>A
ENST00000681450.1:c.*682C>A	ENSP00000505660.1:n.*682C>A
ENST00000681548.1:c.*597C>A	ENSP00000505275.1:n.*597C>A
ENST00000681616.1:c.*670C>A	ENSP00000505111.1:n.*670C>A
ENST00000681621.1:c.*595C>A	ENSP00000505770.1:n.*595C>A
ENST00000681680.1:n.3106C>A
ENST00000681720.1:c.*466C>A	ENSP00000505438.1:n.*466C>A
ENST00000681730.1:n.1233C>A
ENST00000681790.1:c.753C>A	ENSP00000505130.1:p.Tyr251Ter
ENST00000681837.1:n.1627C>A
ENST00000681913.1:n.3257C>A
ENST00000681916.1:c.*779C>A	ENSP00000506477.1:n.*779C>A
ENST00000681930.1:n.3135C>A
ENST00000370834.9:c.1110C>A	ENSP00000359871.5:p.Tyr370Ter
ENST00000370841.8:c.1011C>A	ENSP00000359878.4:p.Tyr337Ter
ENST00000420607.6:c.1023C>A	ENSP00000409612.2:p.Tyr341Ter
ENST00000481374.1:n.284C>A
ENST00000525808.5:c.*597C>A	ENSP00000434823.1:n.*597C>A
ENST00000526129.5:c.*795C>A	ENSP00000434092.1:n.*795C>A
ENST00000526196.5:c.*779C>A	ENSP00000431953.1:n.*779C>A
ENST00000528016.1:c.160-7990C>A	ENSP00000434284.1:n.160-7990C>A
ENST00000529059.5:n.920C>A
ENST00000532207.5:n.741C>A
ENST00000534334.5:c.*752C>A	ENSP00000435584.1:n.*752C>A
ENST00000541113.5:c.903C>A	ENSP00000442324.1:p.Tyr301Ter
NM_000016.5:c.1011C>A	NP_000007.1:p.Tyr337Ter
NM_001127328.2:c.1023C>A	NP_001120800.1:p.Tyr341Ter
NM_001286042.1:c.903C>A	NP_001272971.1:p.Tyr301Ter
NM_001286043.1:c.1110C>A	NP_001272972.1:p.Tyr370Ter
NM_001286044.1:c.444C>A	NP_001272973.1:p.Tyr148Ter
NM_000016.6:c.1011C>A MANE Select	NP_000007.1:p.Tyr337Ter
NM_001127328.3:c.1023C>A	NP_001120800.1:p.Tyr341Ter
NM_001286042.2:c.903C>A	NP_001272971.1:p.Tyr301Ter
NM_001286043.2:c.1110C>A	NP_001272972.1:p.Tyr370Ter
NM_001286044.2:c.444C>A	NP_001272973.1:p.Tyr148Ter