Canonical Allele Identifier: CA397726181

Gene: ACADVL

Linked Data

• dbSNP Id: rs1567570048
• gnomAD v3: 17-7225048-C-T
• gnomAD v4: 17-7225048-C-T
• MyVariant Identifiers: chr17:g.7128367C>T (hg19) ; chr17:g.7225048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225048C>T , CM000679.2:g.7225048C>T	GRCh38
NC_000017.10:g.7128367C>T , CM000679.1:g.7128367C>T	GRCh37
NC_000017.9:g.7069091C>T	NCBI36
NG_007975.1:g.10215C>T
NG_008391.2:g.3G>A
NG_033038.1:g.14497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1919C>T MANE Select	ENSP00000349297.5:p.Ala640Val
ENST00000322910.9:c.*1874C>T	ENSP00000325395.5:n.*1874C>T
ENST00000350303.9:c.1853C>T	ENSP00000344152.5:p.Ala618Val
ENST00000356839.9:c.1919C>T	ENSP00000349297.5:p.Ala640Val
ENST00000542255.6:c.798C>T
ENST00000543245.6:c.1988C>T	ENSP00000438689.2:p.Ala663Val
ENST00000578033.1:n.344C>T
ENST00000578319.5:n.500C>T
ENST00000578711.1:n.1544C>T
ENST00000578809.5:n.491C>T
ENST00000579425.5:n.1035C>T
ENST00000583848.5:c.285C>T	ENSP00000466487.1:n.285C>T
ENST00000583850.5:n.690C>T
ENST00000583858.5:c.850C>T
NM_000018.3:c.1919C>T	NP_000009.1:p.Ala640Val
NM_001033859.2:c.1853C>T	NP_001029031.1:p.Ala618Val
NM_001270447.1:c.1988C>T	NP_001257376.1:p.Ala663Val
NM_001270448.1:c.1691C>T	NP_001257377.1:p.Ala564Val
XM_006721516.2:c.1940C>T	XP_006721579.2:p.Ala647Val
XM_011523829.1:c.1838C>T	XP_011522131.1:p.Ala613Val
XM_011523830.1:c.1817C>T	XP_011522132.1:p.Ala606Val
XR_934021.1:n.2022C>T
XR_934022.1:n.1928C>T
XR_934023.1:n.1949C>T
XM_006721516.3:c.1940C>T	XP_006721579.2:p.Ala647Val
XM_011523829.2:c.1838C>T	XP_011522131.1:p.Ala613Val
XM_011523830.2:c.1817C>T	XP_011522132.1:p.Ala606Val
XM_024450741.1:c.1907C>T	XP_024306509.1:p.Ala636Val
XR_934021.2:n.1974C>T
XR_934022.2:n.1880C>T
XR_934023.2:n.1901C>T
NM_000018.4:c.1919C>T MANE Select	NP_000009.1:p.Ala640Val
NM_001033859.3:c.1853C>T	NP_001029031.1:p.Ala618Val
NM_001270447.2:c.1988C>T	NP_001257376.1:p.Ala663Val
NM_001270448.2:c.1691C>T	NP_001257377.1:p.Ala564Val