Canonical Allele Identifier: CA397723115

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124918C>A (hg19) ; chr17:g.7221599C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221599C>A , CM000679.2:g.7221599C>A	GRCh38
NC_000017.10:g.7124918C>A , CM000679.1:g.7124918C>A	GRCh37
NC_000017.9:g.7065642C>A	NCBI36
NG_007975.1:g.6766C>A
NG_008391.2:g.3452G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.539C>A MANE Select	ENSP00000349297.5:p.Ala180Asp
ENST00000322910.9:c.*494C>A	ENSP00000325395.5:n.*494C>A
ENST00000350303.9:c.473C>A	ENSP00000344152.5:p.Ala158Asp
ENST00000356839.9:c.539C>A	ENSP00000349297.5:p.Ala180Asp
ENST00000543245.6:c.608C>A	ENSP00000438689.2:p.Ala203Asp
ENST00000577191.5:n.616C>A
ENST00000577433.5:n.747C>A
ENST00000577857.5:n.355C>A
ENST00000579286.5:n.720C>A
ENST00000579886.2:c.377C>A	ENSP00000463246.1:p.Ala126Asp
ENST00000580365.1:n.270C>A
ENST00000581378.5:c.257C>A
ENST00000581562.5:n.525-353C>A
ENST00000582166.1:n.520C>A
ENST00000583312.5:c.539C>A	ENSP00000467920.1:p.Ala180Asp
ENST00000583760.1:n.321C>A
NM_000018.3:c.539C>A	NP_000009.1:p.Ala180Asp
NM_001033859.2:c.473C>A	NP_001029031.1:p.Ala158Asp
NM_001270447.1:c.608C>A	NP_001257376.1:p.Ala203Asp
NM_001270448.1:c.311C>A	NP_001257377.1:p.Ala104Asp
XM_006721516.2:c.539C>A	XP_006721579.2:p.Ala180Asp
XM_011523829.1:c.539C>A	XP_011522131.1:p.Ala180Asp
XM_011523830.1:c.539C>A	XP_011522132.1:p.Ala180Asp
XR_934021.1:n.646C>A
XR_934022.1:n.646C>A
XR_934023.1:n.646C>A
XM_006721516.3:c.539C>A	XP_006721579.2:p.Ala180Asp
XM_011523829.2:c.539C>A	XP_011522131.1:p.Ala180Asp
XM_011523830.2:c.539C>A	XP_011522132.1:p.Ala180Asp
XM_024450741.1:c.539C>A	XP_024306509.1:p.Ala180Asp
XR_934021.2:n.598C>A
XR_934022.2:n.598C>A
XR_934023.2:n.598C>A
NM_000018.4:c.539C>A MANE Select	NP_000009.1:p.Ala180Asp
NM_001033859.3:c.473C>A	NP_001029031.1:p.Ala158Asp
NM_001270447.2:c.608C>A	NP_001257376.1:p.Ala203Asp
NM_001270448.2:c.311C>A	NP_001257377.1:p.Ala104Asp