Canonical Allele Identifier: CA397726244

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128400A>C (hg19) ; chr17:g.7225081A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225081A>C , CM000679.2:g.7225081A>C	GRCh38
NC_000017.10:g.7128400A>C , CM000679.1:g.7128400A>C	GRCh37
NC_000017.9:g.7069124A>C	NCBI36
NG_007975.1:g.10248A>C
NG_033038.1:g.14464T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1952A>C MANE Select	ENSP00000349297.5:p.Asn651Thr
ENST00000322910.9:c.*1907A>C	ENSP00000325395.5:n.*1907A>C
ENST00000350303.9:c.1886A>C	ENSP00000344152.5:p.Asn629Thr
ENST00000356839.9:c.1952A>C	ENSP00000349297.5:p.Asn651Thr
ENST00000542255.6:c.831A>C
ENST00000543245.6:c.2021A>C	ENSP00000438689.2:p.Asn674Thr
ENST00000578033.1:n.377A>C
ENST00000578319.5:n.533A>C
ENST00000578711.1:n.1577A>C
ENST00000578809.5:n.524A>C
ENST00000579425.5:n.1068A>C
ENST00000583848.5:c.318A>C	ENSP00000466487.1:n.318A>C
ENST00000583850.5:n.723A>C
ENST00000583858.5:c.883A>C
NM_000018.3:c.1952A>C	NP_000009.1:p.Asn651Thr
NM_001033859.2:c.1886A>C	NP_001029031.1:p.Asn629Thr
NM_001270447.1:c.2021A>C	NP_001257376.1:p.Asn674Thr
NM_001270448.1:c.1724A>C	NP_001257377.1:p.Asn575Thr
XM_006721516.2:c.1973A>C	XP_006721579.2:p.Asn658Thr
XM_011523829.1:c.1871A>C	XP_011522131.1:p.Asn624Thr
XM_011523830.1:c.1850A>C	XP_011522132.1:p.Asn617Thr
XR_934021.1:n.2055A>C
XR_934022.1:n.1961A>C
XR_934023.1:n.1982A>C
XM_006721516.3:c.1973A>C	XP_006721579.2:p.Asn658Thr
XM_011523829.2:c.1871A>C	XP_011522131.1:p.Asn624Thr
XM_011523830.2:c.1850A>C	XP_011522132.1:p.Asn617Thr
XM_024450741.1:c.1940A>C	XP_024306509.1:p.Asn647Thr
XR_934021.2:n.2007A>C
XR_934022.2:n.1913A>C
XR_934023.2:n.1934A>C
NM_000018.4:c.1952A>C MANE Select	NP_000009.1:p.Asn651Thr
NM_001033859.3:c.1886A>C	NP_001029031.1:p.Asn629Thr
NM_001270447.2:c.2021A>C	NP_001257376.1:p.Asn674Thr
NM_001270448.2:c.1724A>C	NP_001257377.1:p.Asn575Thr