Canonical Allele Identifier: CA397725686

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127980G>C (hg19) ; chr17:g.7224661G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224661G>C , CM000679.2:g.7224661G>C	GRCh38
NC_000017.10:g.7127980G>C , CM000679.1:g.7127980G>C	GRCh37
NC_000017.9:g.7068704G>C	NCBI36
NG_007975.1:g.9828G>C
NG_008391.2:g.390C>G
NG_033038.1:g.14884C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1698G>C MANE Select	ENSP00000349297.5:p.Gln566His
ENST00000322910.9:c.*1653G>C	ENSP00000325395.5:n.*1653G>C
ENST00000350303.9:c.1632G>C	ENSP00000344152.5:p.Gln544His
ENST00000356839.9:c.1698G>C	ENSP00000349297.5:p.Gln566His
ENST00000542255.6:c.537-54G>C
ENST00000543245.6:c.1767G>C	ENSP00000438689.2:p.Gln589His
ENST00000578033.1:n.29G>C
ENST00000578319.5:n.279G>C
ENST00000578711.1:n.1157G>C
ENST00000578809.5:n.270G>C
ENST00000579425.5:n.814G>C
ENST00000579546.1:c.433G>C
ENST00000583074.5:n.300-54G>C
ENST00000583848.5:c.65-1G>C	ENSP00000466487.1:n.65-1G>C
ENST00000583850.5:n.469G>C
ENST00000583858.5:c.629G>C
ENST00000585203.6:n.889G>C
NM_000018.3:c.1698G>C	NP_000009.1:p.Gln566His
NM_001033859.2:c.1632G>C	NP_001029031.1:p.Gln544His
NM_001270447.1:c.1767G>C	NP_001257376.1:p.Gln589His
NM_001270448.1:c.1470G>C	NP_001257377.1:p.Gln490His
XM_006721516.2:c.1679-54G>C	XP_006721579.2:n.1679-54G>C
XM_011523829.1:c.1577-54G>C	XP_011522131.1:n.1577-54G>C
XM_011523830.1:c.1596G>C	XP_011522132.1:p.Gln532His
XR_934021.1:n.1801G>C
XR_934022.1:n.1707G>C
XR_934023.1:n.1688-54G>C
XM_006721516.3:c.1679-54G>C	XP_006721579.2:n.1679-54G>C
XM_011523829.2:c.1577-54G>C	XP_011522131.1:n.1577-54G>C
XM_011523830.2:c.1596G>C	XP_011522132.1:p.Gln532His
XM_024450741.1:c.1686G>C	XP_024306509.1:p.Gln562His
XR_934021.2:n.1753G>C
XR_934022.2:n.1659G>C
XR_934023.2:n.1640-54G>C
NM_000018.4:c.1698G>C MANE Select	NP_000009.1:p.Gln566His
NM_001033859.3:c.1632G>C	NP_001029031.1:p.Gln544His
NM_001270447.2:c.1767G>C	NP_001257376.1:p.Gln589His
NM_001270448.2:c.1470G>C	NP_001257377.1:p.Gln490His