Canonical Allele Identifier: CA8338314

Gene: ACADVL

Linked Data

• dbSNP Id: rs759864218
• ExAC: 17:7128387 G / A
• gnomAD v2: 17-7128387-G-A
• gnomAD v4: 17-7225068-G-A
• MyVariant Identifiers: chr17:g.7128387G>A (hg19) ; chr17:g.7225068G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225068G>A , CM000679.2:g.7225068G>A	GRCh38
NC_000017.10:g.7128387G>A , CM000679.1:g.7128387G>A	GRCh37
NC_000017.9:g.7069111G>A	NCBI36
NG_007975.1:g.10235G>A
NG_033038.1:g.14477C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1939G>A MANE Select	ENSP00000349297.5:p.Val647Met
ENST00000322910.9:c.*1894G>A	ENSP00000325395.5:n.*1894G>A
ENST00000350303.9:c.1873G>A	ENSP00000344152.5:p.Val625Met
ENST00000356839.9:c.1939G>A	ENSP00000349297.5:p.Val647Met
ENST00000542255.6:c.818G>A
ENST00000543245.6:c.2008G>A	ENSP00000438689.2:p.Val670Met
ENST00000578033.1:n.364G>A
ENST00000578319.5:n.520G>A
ENST00000578711.1:n.1564G>A
ENST00000578809.5:n.511G>A
ENST00000579425.5:n.1055G>A
ENST00000583848.5:c.305G>A	ENSP00000466487.1:n.305G>A
ENST00000583850.5:n.710G>A
ENST00000583858.5:c.870G>A
NM_000018.3:c.1939G>A	NP_000009.1:p.Val647Met
NM_001033859.2:c.1873G>A	NP_001029031.1:p.Val625Met
NM_001270447.1:c.2008G>A	NP_001257376.1:p.Val670Met
NM_001270448.1:c.1711G>A	NP_001257377.1:p.Val571Met
XM_006721516.2:c.1960G>A	XP_006721579.2:p.Val654Met
XM_011523829.1:c.1858G>A	XP_011522131.1:p.Val620Met
XM_011523830.1:c.1837G>A	XP_011522132.1:p.Val613Met
XR_934021.1:n.2042G>A
XR_934022.1:n.1948G>A
XR_934023.1:n.1969G>A
XM_006721516.3:c.1960G>A	XP_006721579.2:p.Val654Met
XM_011523829.2:c.1858G>A	XP_011522131.1:p.Val620Met
XM_011523830.2:c.1837G>A	XP_011522132.1:p.Val613Met
XM_024450741.1:c.1927G>A	XP_024306509.1:p.Val643Met
XR_934021.2:n.1994G>A
XR_934022.2:n.1900G>A
XR_934023.2:n.1921G>A
NM_000018.4:c.1939G>A MANE Select	NP_000009.1:p.Val647Met
NM_001033859.3:c.1873G>A	NP_001029031.1:p.Val625Met
NM_001270447.2:c.2008G>A	NP_001257376.1:p.Val670Met
NM_001270448.2:c.1711G>A	NP_001257377.1:p.Val571Met