Canonical Allele Identifier: CA2573132607

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1454734
• ClinVar RCV Id: RCV001960737
• dbSNP Id: rs2100452908

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761186dup , CM000663.2:g.75761186dup	GRCh38
NC_000001.10:g.76226871dup , CM000663.1:g.76226871dup	GRCh37
NC_000001.9:g.75999459dup	NCBI36
NG_007045.2:g.41829dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1010dup MANE Select	ENSP00000359878.5:p.Tyr337Ter
ENST00000473018.3:n.3134dup
ENST00000532207.6:n.2021dup
ENST00000541113.6:c.914dup	ENSP00000442324.2:p.Tyr305Ter
ENST00000679509.1:n.1972dup
ENST00000679530.1:c.*778dup	ENSP00000506454.1:n.*778dup
ENST00000679615.1:n.3025dup
ENST00000679687.1:c.572dup	ENSP00000506598.1:p.Tyr191Ter
ENST00000679704.1:c.*776dup	ENSP00000505117.1:n.*776dup
ENST00000679709.1:c.*973dup	ENSP00000506623.1:n.*973dup
ENST00000679976.1:c.*594dup	ENSP00000505565.1:n.*594dup
ENST00000680166.1:n.4299dup
ENST00000680315.1:n.893dup
ENST00000680517.1:c.*398dup	ENSP00000505803.1:n.*398dup
ENST00000680582.1:n.1972dup
ENST00000680613.1:c.*503dup	ENSP00000506114.1:n.*503dup
ENST00000680662.1:c.*924dup	ENSP00000505080.1:n.*924dup
ENST00000680691.1:c.*673dup	ENSP00000506487.1:n.*673dup
ENST00000680694.1:c.*598dup	ENSP00000505658.1:n.*598dup
ENST00000680743.1:c.*799dup	ENSP00000505073.1:n.*799dup
ENST00000680749.1:c.*295dup	ENSP00000505122.1:n.*295dup
ENST00000680798.1:c.*485dup	ENSP00000505670.1:n.*485dup
ENST00000680805.1:c.869dup	ENSP00000505447.1:p.Tyr290Ter
ENST00000680844.1:c.*794dup	ENSP00000506541.1:n.*794dup
ENST00000680948.1:c.*877dup	ENSP00000505441.1:n.*877dup
ENST00000680964.1:c.*103dup	ENSP00000505961.1:n.*103dup
ENST00000681037.1:c.*2494dup	ENSP00000506025.1:n.*2494dup
ENST00000681063.1:c.*279dup	ENSP00000506616.1:n.*279dup
ENST00000681209.1:c.*665dup	ENSP00000505877.1:n.*665dup
ENST00000681278.1:n.1712dup
ENST00000681289.1:n.5005dup
ENST00000681361.1:c.*677dup	ENSP00000506679.1:n.*677dup
ENST00000681430.1:c.*103dup	ENSP00000506301.1:n.*103dup
ENST00000681446.1:c.*714dup	ENSP00000506244.1:n.*714dup
ENST00000681450.1:c.*681dup	ENSP00000505660.1:n.*681dup
ENST00000681548.1:c.*596dup	ENSP00000505275.1:n.*596dup
ENST00000681616.1:c.*669dup	ENSP00000505111.1:n.*669dup
ENST00000681621.1:c.*594dup	ENSP00000505770.1:n.*594dup
ENST00000681680.1:n.3105dup
ENST00000681720.1:c.*465dup	ENSP00000505438.1:n.*465dup
ENST00000681730.1:n.1232dup
ENST00000681790.1:c.752dup	ENSP00000505130.1:p.Tyr251Ter
ENST00000681837.1:n.1626dup
ENST00000681913.1:n.3256dup
ENST00000681916.1:c.*778dup	ENSP00000506477.1:n.*778dup
ENST00000681930.1:n.3134dup
ENST00000370834.9:c.1109dup	ENSP00000359871.5:p.Tyr370Ter
ENST00000370841.8:c.1010dup	ENSP00000359878.4:p.Tyr337Ter
ENST00000420607.6:c.1022dup	ENSP00000409612.2:p.Tyr341Ter
ENST00000481374.1:n.283dup
ENST00000525808.5:c.*596dup	ENSP00000434823.1:n.*596dup
ENST00000526129.5:c.*794dup	ENSP00000434092.1:n.*794dup
ENST00000526196.5:c.*778dup	ENSP00000431953.1:n.*778dup
ENST00000528016.1:c.160-7991dup	ENSP00000434284.1:n.160-7991dup
ENST00000529059.5:n.919dup
ENST00000532207.5:n.740dup
ENST00000534334.5:c.*751dup	ENSP00000435584.1:n.*751dup
ENST00000541113.5:c.902dup	ENSP00000442324.1:p.Tyr301Ter
NM_000016.5:c.1010dup	NP_000007.1:p.Tyr337Ter
NM_001127328.2:c.1022dup	NP_001120800.1:p.Tyr341Ter
NM_001286042.1:c.902dup	NP_001272971.1:p.Tyr301Ter
NM_001286043.1:c.1109dup	NP_001272972.1:p.Tyr370Ter
NM_001286044.1:c.443dup	NP_001272973.1:p.Tyr148Ter
NM_000016.6:c.1010dup MANE Select	NP_000007.1:p.Tyr337Ter
NM_001127328.3:c.1022dup	NP_001120800.1:p.Tyr341Ter
NM_001286042.2:c.902dup	NP_001272971.1:p.Tyr301Ter
NM_001286043.2:c.1109dup	NP_001272972.1:p.Tyr370Ter
NM_001286044.2:c.443dup	NP_001272973.1:p.Tyr148Ter