Canonical Allele Identifier: CA397726068

Gene: ACADVL

Linked Data

• dbSNP Id: rs1597541044
• MyVariant Identifiers: chr17:g.7128318G>A (hg19) ; chr17:g.7224999G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224999G>A , CM000679.2:g.7224999G>A	GRCh38
NC_000017.10:g.7128318G>A , CM000679.1:g.7128318G>A	GRCh37
NC_000017.9:g.7069042G>A	NCBI36
NG_007975.1:g.10166G>A
NG_008391.2:g.52C>T
NG_033038.1:g.14546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1870G>A MANE Select	ENSP00000349297.5:p.Asp624Asn
ENST00000322910.9:c.*1825G>A	ENSP00000325395.5:n.*1825G>A
ENST00000350303.9:c.1804G>A	ENSP00000344152.5:p.Asp602Asn
ENST00000356839.9:c.1870G>A	ENSP00000349297.5:p.Asp624Asn
ENST00000542255.6:c.749G>A
ENST00000543245.6:c.1939G>A	ENSP00000438689.2:p.Asp647Asn
ENST00000578033.1:n.295G>A
ENST00000578319.5:n.451G>A
ENST00000578711.1:n.1495G>A
ENST00000578809.5:n.442G>A
ENST00000579425.5:n.986G>A
ENST00000583848.5:c.236G>A	ENSP00000466487.1:n.236G>A
ENST00000583850.5:n.641G>A
ENST00000583858.5:c.801G>A
NM_000018.3:c.1870G>A	NP_000009.1:p.Asp624Asn
NM_001033859.2:c.1804G>A	NP_001029031.1:p.Asp602Asn
NM_001270447.1:c.1939G>A	NP_001257376.1:p.Asp647Asn
NM_001270448.1:c.1642G>A	NP_001257377.1:p.Asp548Asn
XM_006721516.2:c.1891G>A	XP_006721579.2:p.Asp631Asn
XM_011523829.1:c.1789G>A	XP_011522131.1:p.Asp597Asn
XM_011523830.1:c.1768G>A	XP_011522132.1:p.Asp590Asn
XR_934021.1:n.1973G>A
XR_934022.1:n.1879G>A
XR_934023.1:n.1900G>A
XM_006721516.3:c.1891G>A	XP_006721579.2:p.Asp631Asn
XM_011523829.2:c.1789G>A	XP_011522131.1:p.Asp597Asn
XM_011523830.2:c.1768G>A	XP_011522132.1:p.Asp590Asn
XM_024450741.1:c.1858G>A	XP_024306509.1:p.Asp620Asn
XR_934021.2:n.1925G>A
XR_934022.2:n.1831G>A
XR_934023.2:n.1852G>A
NM_000018.4:c.1870G>A MANE Select	NP_000009.1:p.Asp624Asn
NM_001033859.3:c.1804G>A	NP_001029031.1:p.Asp602Asn
NM_001270447.2:c.1939G>A	NP_001257376.1:p.Asp647Asn
NM_001270448.2:c.1642G>A	NP_001257377.1:p.Asp548Asn