Canonical Allele Identifier: CA397726044

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128306G>C (hg19) ; chr17:g.7224987G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224987G>C , CM000679.2:g.7224987G>C	GRCh38
NC_000017.10:g.7128306G>C , CM000679.1:g.7128306G>C	GRCh37
NC_000017.9:g.7069030G>C	NCBI36
NG_007975.1:g.10154G>C
NG_008391.2:g.64C>G
NG_033038.1:g.14558C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1858G>C MANE Select	ENSP00000349297.5:p.Ala620Pro
ENST00000322910.9:c.*1813G>C	ENSP00000325395.5:n.*1813G>C
ENST00000350303.9:c.1792G>C	ENSP00000344152.5:p.Ala598Pro
ENST00000356839.9:c.1858G>C	ENSP00000349297.5:p.Ala620Pro
ENST00000542255.6:c.737G>C
ENST00000543245.6:c.1927G>C	ENSP00000438689.2:p.Ala643Pro
ENST00000578033.1:n.283G>C
ENST00000578319.5:n.439G>C
ENST00000578711.1:n.1483G>C
ENST00000578809.5:n.430G>C
ENST00000579425.5:n.974G>C
ENST00000583848.5:c.224G>C	ENSP00000466487.1:n.224G>C
ENST00000583850.5:n.629G>C
ENST00000583858.5:c.789G>C
NM_000018.3:c.1858G>C	NP_000009.1:p.Ala620Pro
NM_001033859.2:c.1792G>C	NP_001029031.1:p.Ala598Pro
NM_001270447.1:c.1927G>C	NP_001257376.1:p.Ala643Pro
NM_001270448.1:c.1630G>C	NP_001257377.1:p.Ala544Pro
XM_006721516.2:c.1879G>C	XP_006721579.2:p.Ala627Pro
XM_011523829.1:c.1777G>C	XP_011522131.1:p.Ala593Pro
XM_011523830.1:c.1756G>C	XP_011522132.1:p.Ala586Pro
XR_934021.1:n.1961G>C
XR_934022.1:n.1867G>C
XR_934023.1:n.1888G>C
XM_006721516.3:c.1879G>C	XP_006721579.2:p.Ala627Pro
XM_011523829.2:c.1777G>C	XP_011522131.1:p.Ala593Pro
XM_011523830.2:c.1756G>C	XP_011522132.1:p.Ala586Pro
XM_024450741.1:c.1846G>C	XP_024306509.1:p.Ala616Pro
XR_934021.2:n.1913G>C
XR_934022.2:n.1819G>C
XR_934023.2:n.1840G>C
NM_000018.4:c.1858G>C MANE Select	NP_000009.1:p.Ala620Pro
NM_001033859.3:c.1792G>C	NP_001029031.1:p.Ala598Pro
NM_001270447.2:c.1927G>C	NP_001257376.1:p.Ala643Pro
NM_001270448.2:c.1630G>C	NP_001257377.1:p.Ala544Pro