Canonical Allele Identifier: CA397723618

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125497A>C (hg19) ; chr17:g.7222178A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222178A>C , CM000679.2:g.7222178A>C	GRCh38
NC_000017.10:g.7125497A>C , CM000679.1:g.7125497A>C	GRCh37
NC_000017.9:g.7066221A>C	NCBI36
NG_007975.1:g.7345A>C
NG_008391.2:g.2873T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.754A>C MANE Select	ENSP00000349297.5:p.Asn252His
ENST00000322910.9:c.*709A>C	ENSP00000325395.5:n.*709A>C
ENST00000350303.9:c.688A>C	ENSP00000344152.5:p.Asn230His
ENST00000356839.9:c.754A>C	ENSP00000349297.5:p.Asn252His
ENST00000543245.6:c.823A>C	ENSP00000438689.2:p.Asn275His
ENST00000577191.5:n.926A>C
ENST00000581378.5:c.472A>C
ENST00000582379.1:n.138A>C
NM_000018.3:c.754A>C	NP_000009.1:p.Asn252His
NM_001033859.2:c.688A>C	NP_001029031.1:p.Asn230His
NM_001270447.1:c.823A>C	NP_001257376.1:p.Asn275His
NM_001270448.1:c.526A>C	NP_001257377.1:p.Asn176His
XM_006721516.2:c.754A>C	XP_006721579.2:p.Asn252His
XM_011523829.1:c.754A>C	XP_011522131.1:p.Asn252His
XM_011523830.1:c.754A>C	XP_011522132.1:p.Asn252His
XR_934021.1:n.861A>C
XR_934022.1:n.861A>C
XR_934023.1:n.861A>C
XM_006721516.3:c.754A>C	XP_006721579.2:p.Asn252His
XM_011523829.2:c.754A>C	XP_011522131.1:p.Asn252His
XM_011523830.2:c.754A>C	XP_011522132.1:p.Asn252His
XM_024450741.1:c.754A>C	XP_024306509.1:p.Asn252His
XR_934021.2:n.813A>C
XR_934022.2:n.813A>C
XR_934023.2:n.813A>C
NM_000018.4:c.754A>C MANE Select	NP_000009.1:p.Asn252His
NM_001033859.3:c.688A>C	NP_001029031.1:p.Asn230His
NM_001270447.2:c.823A>C	NP_001257376.1:p.Asn275His
NM_001270448.2:c.526A>C	NP_001257377.1:p.Asn176His