Canonical Allele Identifier: CA397725132

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127470A>C (hg19) ; chr17:g.7224151A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224151A>C , CM000679.2:g.7224151A>C	GRCh38
NC_000017.10:g.7127470A>C , CM000679.1:g.7127470A>C	GRCh37
NC_000017.9:g.7068194A>C	NCBI36
NG_007975.1:g.9318A>C
NG_008391.2:g.900T>G
NG_033038.1:g.15394T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1440A>C MANE Select	ENSP00000349297.5:p.Lys480Asn
ENST00000322910.9:c.*1395A>C	ENSP00000325395.5:n.*1395A>C
ENST00000350303.9:c.1374A>C	ENSP00000344152.5:p.Lys458Asn
ENST00000356839.9:c.1440A>C	ENSP00000349297.5:p.Lys480Asn
ENST00000542255.6:c.298A>C
ENST00000543245.6:c.1509A>C	ENSP00000438689.2:p.Lys503Asn
ENST00000578711.1:n.647A>C
ENST00000579391.1:n.48A>C
ENST00000579425.5:n.556A>C
ENST00000579546.1:c.271+82A>C
ENST00000579894.5:n.227A>C
ENST00000583074.5:n.153+82A>C
ENST00000583850.5:n.215A>C
ENST00000583858.5:c.463+82A>C
ENST00000585203.6:n.631A>C
NM_000018.3:c.1440A>C	NP_000009.1:p.Lys480Asn
NM_001033859.2:c.1374A>C	NP_001029031.1:p.Lys458Asn
NM_001270447.1:c.1509A>C	NP_001257376.1:p.Lys503Asn
NM_001270448.1:c.1212A>C	NP_001257377.1:p.Lys404Asn
XM_006721516.2:c.1440A>C	XP_006721579.2:p.Lys480Asn
XM_011523829.1:c.1434+82A>C	XP_011522131.1:n.1434+82A>C
XM_011523830.1:c.1434+82A>C	XP_011522132.1:n.1434+82A>C
XR_934021.1:n.1547A>C
XR_934022.1:n.1541+82A>C
XR_934023.1:n.1541+82A>C
XM_006721516.3:c.1440A>C	XP_006721579.2:p.Lys480Asn
XM_011523829.2:c.1434+82A>C	XP_011522131.1:n.1434+82A>C
XM_011523830.2:c.1434+82A>C	XP_011522132.1:n.1434+82A>C
XM_024450741.1:c.1434+82A>C	XP_024306509.1:n.1434+82A>C
XR_934021.2:n.1499A>C
XR_934022.2:n.1493+82A>C
XR_934023.2:n.1493+82A>C
NM_000018.4:c.1440A>C MANE Select	NP_000009.1:p.Lys480Asn
NM_001033859.3:c.1374A>C	NP_001029031.1:p.Lys458Asn
NM_001270447.2:c.1509A>C	NP_001257376.1:p.Lys503Asn
NM_001270448.2:c.1212A>C	NP_001257377.1:p.Lys404Asn