Canonical Allele Identifier: CA397726060

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128314G>C (hg19) ; chr17:g.7224995G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224995G>C , CM000679.2:g.7224995G>C	GRCh38
NC_000017.10:g.7128314G>C , CM000679.1:g.7128314G>C	GRCh37
NC_000017.9:g.7069038G>C	NCBI36
NG_007975.1:g.10162G>C
NG_008391.2:g.56C>G
NG_033038.1:g.14550C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1866G>C MANE Select	ENSP00000349297.5:p.Gln622His
ENST00000322910.9:c.*1821G>C	ENSP00000325395.5:n.*1821G>C
ENST00000350303.9:c.1800G>C	ENSP00000344152.5:p.Gln600His
ENST00000356839.9:c.1866G>C	ENSP00000349297.5:p.Gln622His
ENST00000542255.6:c.745G>C
ENST00000543245.6:c.1935G>C	ENSP00000438689.2:p.Gln645His
ENST00000578033.1:n.291G>C
ENST00000578319.5:n.447G>C
ENST00000578711.1:n.1491G>C
ENST00000578809.5:n.438G>C
ENST00000579425.5:n.982G>C
ENST00000583848.5:c.232G>C	ENSP00000466487.1:n.232G>C
ENST00000583850.5:n.637G>C
ENST00000583858.5:c.797G>C
NM_000018.3:c.1866G>C	NP_000009.1:p.Gln622His
NM_001033859.2:c.1800G>C	NP_001029031.1:p.Gln600His
NM_001270447.1:c.1935G>C	NP_001257376.1:p.Gln645His
NM_001270448.1:c.1638G>C	NP_001257377.1:p.Gln546His
XM_006721516.2:c.1887G>C	XP_006721579.2:p.Gln629His
XM_011523829.1:c.1785G>C	XP_011522131.1:p.Gln595His
XM_011523830.1:c.1764G>C	XP_011522132.1:p.Gln588His
XR_934021.1:n.1969G>C
XR_934022.1:n.1875G>C
XR_934023.1:n.1896G>C
XM_006721516.3:c.1887G>C	XP_006721579.2:p.Gln629His
XM_011523829.2:c.1785G>C	XP_011522131.1:p.Gln595His
XM_011523830.2:c.1764G>C	XP_011522132.1:p.Gln588His
XM_024450741.1:c.1854G>C	XP_024306509.1:p.Gln618His
XR_934021.2:n.1921G>C
XR_934022.2:n.1827G>C
XR_934023.2:n.1848G>C
NM_000018.4:c.1866G>C MANE Select	NP_000009.1:p.Gln622His
NM_001033859.3:c.1800G>C	NP_001029031.1:p.Gln600His
NM_001270447.2:c.1935G>C	NP_001257376.1:p.Gln645His
NM_001270448.2:c.1638G>C	NP_001257377.1:p.Gln546His