Canonical Allele Identifier: CA397726174

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128365G>C (hg19) ; chr17:g.7225046G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225046G>C , CM000679.2:g.7225046G>C	GRCh38
NC_000017.10:g.7128365G>C , CM000679.1:g.7128365G>C	GRCh37
NC_000017.9:g.7069089G>C	NCBI36
NG_007975.1:g.10213G>C
NG_008391.2:g.5C>G
NG_033038.1:g.14499C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1917G>C MANE Select	ENSP00000349297.5:p.Lys639Asn
ENST00000322910.9:c.*1872G>C	ENSP00000325395.5:n.*1872G>C
ENST00000350303.9:c.1851G>C	ENSP00000344152.5:p.Lys617Asn
ENST00000356839.9:c.1917G>C	ENSP00000349297.5:p.Lys639Asn
ENST00000542255.6:c.796G>C
ENST00000543245.6:c.1986G>C	ENSP00000438689.2:p.Lys662Asn
ENST00000578033.1:n.342G>C
ENST00000578319.5:n.498G>C
ENST00000578711.1:n.1542G>C
ENST00000578809.5:n.489G>C
ENST00000579425.5:n.1033G>C
ENST00000583848.5:c.283G>C	ENSP00000466487.1:n.283G>C
ENST00000583850.5:n.688G>C
ENST00000583858.5:c.848G>C
NM_000018.3:c.1917G>C	NP_000009.1:p.Lys639Asn
NM_001033859.2:c.1851G>C	NP_001029031.1:p.Lys617Asn
NM_001270447.1:c.1986G>C	NP_001257376.1:p.Lys662Asn
NM_001270448.1:c.1689G>C	NP_001257377.1:p.Lys563Asn
XM_006721516.2:c.1938G>C	XP_006721579.2:p.Lys646Asn
XM_011523829.1:c.1836G>C	XP_011522131.1:p.Lys612Asn
XM_011523830.1:c.1815G>C	XP_011522132.1:p.Lys605Asn
XR_934021.1:n.2020G>C
XR_934022.1:n.1926G>C
XR_934023.1:n.1947G>C
XM_006721516.3:c.1938G>C	XP_006721579.2:p.Lys646Asn
XM_011523829.2:c.1836G>C	XP_011522131.1:p.Lys612Asn
XM_011523830.2:c.1815G>C	XP_011522132.1:p.Lys605Asn
XM_024450741.1:c.1905G>C	XP_024306509.1:p.Lys635Asn
XR_934021.2:n.1972G>C
XR_934022.2:n.1878G>C
XR_934023.2:n.1899G>C
NM_000018.4:c.1917G>C MANE Select	NP_000009.1:p.Lys639Asn
NM_001033859.3:c.1851G>C	NP_001029031.1:p.Lys617Asn
NM_001270447.2:c.1986G>C	NP_001257376.1:p.Lys662Asn
NM_001270448.2:c.1689G>C	NP_001257377.1:p.Lys563Asn