Canonical Allele Identifier: CA397726067

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128318G>T (hg19) ; chr17:g.7224999G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1870G>T MANE Select	ENSP00000349297.5:p.Asp624Tyr
ENST00000322910.9:c.*1825G>T	ENSP00000325395.5:n.*1825G>T
ENST00000350303.9:c.1804G>T	ENSP00000344152.5:p.Asp602Tyr
ENST00000356839.9:c.1870G>T	ENSP00000349297.5:p.Asp624Tyr
ENST00000542255.6:c.749G>T
ENST00000543245.6:c.1939G>T	ENSP00000438689.2:p.Asp647Tyr
ENST00000578033.1:n.295G>T
ENST00000578319.5:n.451G>T
ENST00000578711.1:n.1495G>T
ENST00000578809.5:n.442G>T
ENST00000579425.5:n.986G>T
ENST00000583848.5:c.236G>T	ENSP00000466487.1:n.236G>T
ENST00000583850.5:n.641G>T
ENST00000583858.5:c.801G>T
NM_000018.3:c.1870G>T	NP_000009.1:p.Asp624Tyr
NM_001033859.2:c.1804G>T	NP_001029031.1:p.Asp602Tyr
NM_001270447.1:c.1939G>T	NP_001257376.1:p.Asp647Tyr
NM_001270448.1:c.1642G>T	NP_001257377.1:p.Asp548Tyr
XM_006721516.2:c.1891G>T	XP_006721579.2:p.Asp631Tyr
XM_011523829.1:c.1789G>T	XP_011522131.1:p.Asp597Tyr
XM_011523830.1:c.1768G>T	XP_011522132.1:p.Asp590Tyr
XR_934021.1:n.1973G>T
XR_934022.1:n.1879G>T
XR_934023.1:n.1900G>T
XM_006721516.3:c.1891G>T	XP_006721579.2:p.Asp631Tyr
XM_011523829.2:c.1789G>T	XP_011522131.1:p.Asp597Tyr
XM_011523830.2:c.1768G>T	XP_011522132.1:p.Asp590Tyr
XM_024450741.1:c.1858G>T	XP_024306509.1:p.Asp620Tyr
XR_934021.2:n.1925G>T
XR_934022.2:n.1831G>T
XR_934023.2:n.1852G>T
NM_000018.4:c.1870G>T MANE Select	NP_000009.1:p.Asp624Tyr
NM_001033859.3:c.1804G>T	NP_001029031.1:p.Asp602Tyr
NM_001270447.2:c.1939G>T	NP_001257376.1:p.Asp647Tyr
NM_001270448.2:c.1642G>T	NP_001257377.1:p.Asp548Tyr