Canonical Allele Identifier: CA397726178

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128366G>T (hg19) ; chr17:g.7225047G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225047G>T , CM000679.2:g.7225047G>T	GRCh38
NC_000017.10:g.7128366G>T , CM000679.1:g.7128366G>T	GRCh37
NC_000017.9:g.7069090G>T	NCBI36
NG_007975.1:g.10214G>T
NG_008391.2:g.4C>A
NG_033038.1:g.14498C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1918G>T MANE Select	ENSP00000349297.5:p.Ala640Ser
ENST00000322910.9:c.*1873G>T	ENSP00000325395.5:n.*1873G>T
ENST00000350303.9:c.1852G>T	ENSP00000344152.5:p.Ala618Ser
ENST00000356839.9:c.1918G>T	ENSP00000349297.5:p.Ala640Ser
ENST00000542255.6:c.797G>T
ENST00000543245.6:c.1987G>T	ENSP00000438689.2:p.Ala663Ser
ENST00000578033.1:n.343G>T
ENST00000578319.5:n.499G>T
ENST00000578711.1:n.1543G>T
ENST00000578809.5:n.490G>T
ENST00000579425.5:n.1034G>T
ENST00000583848.5:c.284G>T	ENSP00000466487.1:n.284G>T
ENST00000583850.5:n.689G>T
ENST00000583858.5:c.849G>T
NM_000018.3:c.1918G>T	NP_000009.1:p.Ala640Ser
NM_001033859.2:c.1852G>T	NP_001029031.1:p.Ala618Ser
NM_001270447.1:c.1987G>T	NP_001257376.1:p.Ala663Ser
NM_001270448.1:c.1690G>T	NP_001257377.1:p.Ala564Ser
XM_006721516.2:c.1939G>T	XP_006721579.2:p.Ala647Ser
XM_011523829.1:c.1837G>T	XP_011522131.1:p.Ala613Ser
XM_011523830.1:c.1816G>T	XP_011522132.1:p.Ala606Ser
XR_934021.1:n.2021G>T
XR_934022.1:n.1927G>T
XR_934023.1:n.1948G>T
XM_006721516.3:c.1939G>T	XP_006721579.2:p.Ala647Ser
XM_011523829.2:c.1837G>T	XP_011522131.1:p.Ala613Ser
XM_011523830.2:c.1816G>T	XP_011522132.1:p.Ala606Ser
XM_024450741.1:c.1906G>T	XP_024306509.1:p.Ala636Ser
XR_934021.2:n.1973G>T
XR_934022.2:n.1879G>T
XR_934023.2:n.1900G>T
NM_000018.4:c.1918G>T MANE Select	NP_000009.1:p.Ala640Ser
NM_001033859.3:c.1852G>T	NP_001029031.1:p.Ala618Ser
NM_001270447.2:c.1987G>T	NP_001257376.1:p.Ala663Ser
NM_001270448.2:c.1690G>T	NP_001257377.1:p.Ala564Ser