Canonical Allele Identifier: CA397726016

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128292G>C (hg19) ; chr17:g.7224973G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224973G>C , CM000679.2:g.7224973G>C	GRCh38
NC_000017.10:g.7128292G>C , CM000679.1:g.7128292G>C	GRCh37
NC_000017.9:g.7069016G>C	NCBI36
NG_007975.1:g.10140G>C
NG_008391.2:g.78C>G
NG_033038.1:g.14572C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1844G>C MANE Select	ENSP00000349297.5:p.Arg615Pro
ENST00000322910.9:c.*1799G>C	ENSP00000325395.5:n.*1799G>C
ENST00000350303.9:c.1778G>C	ENSP00000344152.5:p.Arg593Pro
ENST00000356839.9:c.1844G>C	ENSP00000349297.5:p.Arg615Pro
ENST00000542255.6:c.723G>C
ENST00000543245.6:c.1913G>C	ENSP00000438689.2:p.Arg638Pro
ENST00000578033.1:n.269G>C
ENST00000578319.5:n.425G>C
ENST00000578711.1:n.1469G>C
ENST00000578809.5:n.416G>C
ENST00000579425.5:n.960G>C
ENST00000579546.1:c.579G>C
ENST00000583848.5:c.210G>C	ENSP00000466487.1:n.210G>C
ENST00000583850.5:n.615G>C
ENST00000583858.5:c.775G>C
NM_000018.3:c.1844G>C	NP_000009.1:p.Arg615Pro
NM_001033859.2:c.1778G>C	NP_001029031.1:p.Arg593Pro
NM_001270447.1:c.1913G>C	NP_001257376.1:p.Arg638Pro
NM_001270448.1:c.1616G>C	NP_001257377.1:p.Arg539Pro
XM_006721516.2:c.1865G>C	XP_006721579.2:p.Arg622Pro
XM_011523829.1:c.1763G>C	XP_011522131.1:p.Arg588Pro
XM_011523830.1:c.1742G>C	XP_011522132.1:p.Arg581Pro
XR_934021.1:n.1947G>C
XR_934022.1:n.1853G>C
XR_934023.1:n.1874G>C
XM_006721516.3:c.1865G>C	XP_006721579.2:p.Arg622Pro
XM_011523829.2:c.1763G>C	XP_011522131.1:p.Arg588Pro
XM_011523830.2:c.1742G>C	XP_011522132.1:p.Arg581Pro
XM_024450741.1:c.1832G>C	XP_024306509.1:p.Arg611Pro
XR_934021.2:n.1899G>C
XR_934022.2:n.1805G>C
XR_934023.2:n.1826G>C
NM_000018.4:c.1844G>C MANE Select	NP_000009.1:p.Arg615Pro
NM_001033859.3:c.1778G>C	NP_001029031.1:p.Arg593Pro
NM_001270447.2:c.1913G>C	NP_001257376.1:p.Arg638Pro
NM_001270448.2:c.1616G>C	NP_001257377.1:p.Arg539Pro