Canonical Allele Identifier: CA397726242

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128399A>C (hg19) ; chr17:g.7225080A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225080A>C , CM000679.2:g.7225080A>C	GRCh38
NC_000017.10:g.7128399A>C , CM000679.1:g.7128399A>C	GRCh37
NC_000017.9:g.7069123A>C	NCBI36
NG_007975.1:g.10247A>C
NG_033038.1:g.14465T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1951A>C MANE Select	ENSP00000349297.5:p.Asn651His
ENST00000322910.9:c.*1906A>C	ENSP00000325395.5:n.*1906A>C
ENST00000350303.9:c.1885A>C	ENSP00000344152.5:p.Asn629His
ENST00000356839.9:c.1951A>C	ENSP00000349297.5:p.Asn651His
ENST00000542255.6:c.830A>C
ENST00000543245.6:c.2020A>C	ENSP00000438689.2:p.Asn674His
ENST00000578033.1:n.376A>C
ENST00000578319.5:n.532A>C
ENST00000578711.1:n.1576A>C
ENST00000578809.5:n.523A>C
ENST00000579425.5:n.1067A>C
ENST00000583848.5:c.317A>C	ENSP00000466487.1:n.317A>C
ENST00000583850.5:n.722A>C
ENST00000583858.5:c.882A>C
NM_000018.3:c.1951A>C	NP_000009.1:p.Asn651His
NM_001033859.2:c.1885A>C	NP_001029031.1:p.Asn629His
NM_001270447.1:c.2020A>C	NP_001257376.1:p.Asn674His
NM_001270448.1:c.1723A>C	NP_001257377.1:p.Asn575His
XM_006721516.2:c.1972A>C	XP_006721579.2:p.Asn658His
XM_011523829.1:c.1870A>C	XP_011522131.1:p.Asn624His
XM_011523830.1:c.1849A>C	XP_011522132.1:p.Asn617His
XR_934021.1:n.2054A>C
XR_934022.1:n.1960A>C
XR_934023.1:n.1981A>C
XM_006721516.3:c.1972A>C	XP_006721579.2:p.Asn658His
XM_011523829.2:c.1870A>C	XP_011522131.1:p.Asn624His
XM_011523830.2:c.1849A>C	XP_011522132.1:p.Asn617His
XM_024450741.1:c.1939A>C	XP_024306509.1:p.Asn647His
XR_934021.2:n.2006A>C
XR_934022.2:n.1912A>C
XR_934023.2:n.1933A>C
NM_000018.4:c.1951A>C MANE Select	NP_000009.1:p.Asn651His
NM_001033859.3:c.1885A>C	NP_001029031.1:p.Asn629His
NM_001270447.2:c.2020A>C	NP_001257376.1:p.Asn674His
NM_001270448.2:c.1723A>C	NP_001257377.1:p.Asn575His