Canonical Allele Identifier: CA397726092

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 848987
• ClinVar RCV Id: RCV001052857
• dbSNP Id: rs931018661
• gnomAD v2: 17-7128329-G-C
• gnomAD v3: 17-7225010-G-C
• gnomAD v4: 17-7225010-G-C
• MyVariant Identifiers: chr17:g.7128329G>C (hg19) ; chr17:g.7225010G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225010G>C , CM000679.2:g.7225010G>C	GRCh38
NC_000017.10:g.7128329G>C , CM000679.1:g.7128329G>C	GRCh37
NC_000017.9:g.7069053G>C	NCBI36
NG_007975.1:g.10177G>C
NG_008391.2:g.41C>G
NG_033038.1:g.14535C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1881G>C MANE Select	ENSP00000349297.5:p.Gln627His
ENST00000322910.9:c.*1836G>C	ENSP00000325395.5:n.*1836G>C
ENST00000350303.9:c.1815G>C	ENSP00000344152.5:p.Gln605His
ENST00000356839.9:c.1881G>C	ENSP00000349297.5:p.Gln627His
ENST00000542255.6:c.760G>C
ENST00000543245.6:c.1950G>C	ENSP00000438689.2:p.Gln650His
ENST00000578033.1:n.306G>C
ENST00000578319.5:n.462G>C
ENST00000578711.1:n.1506G>C
ENST00000578809.5:n.453G>C
ENST00000579425.5:n.997G>C
ENST00000583848.5:c.247G>C	ENSP00000466487.1:n.247G>C
ENST00000583850.5:n.652G>C
ENST00000583858.5:c.812G>C
NM_000018.3:c.1881G>C	NP_000009.1:p.Gln627His
NM_001033859.2:c.1815G>C	NP_001029031.1:p.Gln605His
NM_001270447.1:c.1950G>C	NP_001257376.1:p.Gln650His
NM_001270448.1:c.1653G>C	NP_001257377.1:p.Gln551His
XM_006721516.2:c.1902G>C	XP_006721579.2:p.Gln634His
XM_011523829.1:c.1800G>C	XP_011522131.1:p.Gln600His
XM_011523830.1:c.1779G>C	XP_011522132.1:p.Gln593His
XR_934021.1:n.1984G>C
XR_934022.1:n.1890G>C
XR_934023.1:n.1911G>C
XM_006721516.3:c.1902G>C	XP_006721579.2:p.Gln634His
XM_011523829.2:c.1800G>C	XP_011522131.1:p.Gln600His
XM_011523830.2:c.1779G>C	XP_011522132.1:p.Gln593His
XM_024450741.1:c.1869G>C	XP_024306509.1:p.Gln623His
XR_934021.2:n.1936G>C
XR_934022.2:n.1842G>C
XR_934023.2:n.1863G>C
NM_000018.4:c.1881G>C MANE Select	NP_000009.1:p.Gln627His
NM_001033859.3:c.1815G>C	NP_001029031.1:p.Gln605His
NM_001270447.2:c.1950G>C	NP_001257376.1:p.Gln650His
NM_001270448.2:c.1653G>C	NP_001257377.1:p.Gln551His