Canonical Allele Identifier: CA397726071

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128319A>G (hg19) ; chr17:g.7225000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225000A>G , CM000679.2:g.7225000A>G	GRCh38
NC_000017.10:g.7128319A>G , CM000679.1:g.7128319A>G	GRCh37
NC_000017.9:g.7069043A>G	NCBI36
NG_007975.1:g.10167A>G
NG_008391.2:g.51T>C
NG_033038.1:g.14545T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1871A>G MANE Select	ENSP00000349297.5:p.Asp624Gly
ENST00000322910.9:c.*1826A>G	ENSP00000325395.5:n.*1826A>G
ENST00000350303.9:c.1805A>G	ENSP00000344152.5:p.Asp602Gly
ENST00000356839.9:c.1871A>G	ENSP00000349297.5:p.Asp624Gly
ENST00000542255.6:c.750A>G
ENST00000543245.6:c.1940A>G	ENSP00000438689.2:p.Asp647Gly
ENST00000578033.1:n.296A>G
ENST00000578319.5:n.452A>G
ENST00000578711.1:n.1496A>G
ENST00000578809.5:n.443A>G
ENST00000579425.5:n.987A>G
ENST00000583848.5:c.237A>G	ENSP00000466487.1:n.237A>G
ENST00000583850.5:n.642A>G
ENST00000583858.5:c.802A>G
NM_000018.3:c.1871A>G	NP_000009.1:p.Asp624Gly
NM_001033859.2:c.1805A>G	NP_001029031.1:p.Asp602Gly
NM_001270447.1:c.1940A>G	NP_001257376.1:p.Asp647Gly
NM_001270448.1:c.1643A>G	NP_001257377.1:p.Asp548Gly
XM_006721516.2:c.1892A>G	XP_006721579.2:p.Asp631Gly
XM_011523829.1:c.1790A>G	XP_011522131.1:p.Asp597Gly
XM_011523830.1:c.1769A>G	XP_011522132.1:p.Asp590Gly
XR_934021.1:n.1974A>G
XR_934022.1:n.1880A>G
XR_934023.1:n.1901A>G
XM_006721516.3:c.1892A>G	XP_006721579.2:p.Asp631Gly
XM_011523829.2:c.1790A>G	XP_011522131.1:p.Asp597Gly
XM_011523830.2:c.1769A>G	XP_011522132.1:p.Asp590Gly
XM_024450741.1:c.1859A>G	XP_024306509.1:p.Asp620Gly
XR_934021.2:n.1926A>G
XR_934022.2:n.1832A>G
XR_934023.2:n.1853A>G
NM_000018.4:c.1871A>G MANE Select	NP_000009.1:p.Asp624Gly
NM_001033859.3:c.1805A>G	NP_001029031.1:p.Asp602Gly
NM_001270447.2:c.1940A>G	NP_001257376.1:p.Asp647Gly
NM_001270448.2:c.1643A>G	NP_001257377.1:p.Asp548Gly