Canonical Allele Identifier: CA397725580

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 474891
• ClinVar RCV Id: RCV000545827
• dbSNP Id: rs1555528957
• MyVariant Identifiers: chr17:g.7127850A>C (hg19) ; chr17:g.7224531A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224531A>C , CM000679.2:g.7224531A>C	GRCh38
NC_000017.10:g.7127850A>C , CM000679.1:g.7127850A>C	GRCh37
NC_000017.9:g.7068574A>C	NCBI36
NG_007975.1:g.9698A>C
NG_008391.2:g.520T>G
NG_033038.1:g.15014T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1657A>C MANE Select	ENSP00000349297.5:p.Lys553Gln
ENST00000322910.9:c.*1612A>C	ENSP00000325395.5:n.*1612A>C
ENST00000350303.9:c.1591A>C	ENSP00000344152.5:p.Lys531Gln
ENST00000356839.9:c.1657A>C	ENSP00000349297.5:p.Lys553Gln
ENST00000542255.6:c.515A>C
ENST00000543245.6:c.1726A>C	ENSP00000438689.2:p.Lys576Gln
ENST00000578319.5:n.238A>C
ENST00000578711.1:n.1027A>C
ENST00000578809.5:n.229A>C
ENST00000579391.1:n.261A>C
ENST00000579425.5:n.773A>C
ENST00000579546.1:c.392A>C
ENST00000582450.1:n.165A>C
ENST00000583074.5:n.278A>C
ENST00000583848.5:c.43A>C	ENSP00000466487.1:p.Lys15Gln
ENST00000583850.5:n.428A>C
ENST00000583858.5:c.588A>C
ENST00000585203.6:n.848A>C
NM_000018.3:c.1657A>C	NP_000009.1:p.Lys553Gln
NM_001033859.2:c.1591A>C	NP_001029031.1:p.Lys531Gln
NM_001270447.1:c.1726A>C	NP_001257376.1:p.Lys576Gln
NM_001270448.1:c.1429A>C	NP_001257377.1:p.Lys477Gln
XM_006721516.2:c.1657A>C	XP_006721579.2:p.Lys553Gln
XM_011523829.1:c.1555A>C	XP_011522131.1:p.Lys519Gln
XM_011523830.1:c.1555A>C	XP_011522132.1:p.Lys519Gln
XR_934021.1:n.1760A>C
XR_934022.1:n.1666A>C
XR_934023.1:n.1666A>C
XM_006721516.3:c.1657A>C	XP_006721579.2:p.Lys553Gln
XM_011523829.2:c.1555A>C	XP_011522131.1:p.Lys519Gln
XM_011523830.2:c.1555A>C	XP_011522132.1:p.Lys519Gln
XM_024450741.1:c.1645A>C	XP_024306509.1:p.Lys549Gln
XR_934021.2:n.1712A>C
XR_934022.2:n.1618A>C
XR_934023.2:n.1618A>C
NM_000018.4:c.1657A>C MANE Select	NP_000009.1:p.Lys553Gln
NM_001033859.3:c.1591A>C	NP_001029031.1:p.Lys531Gln
NM_001270447.2:c.1726A>C	NP_001257376.1:p.Lys576Gln
NM_001270448.2:c.1429A>C	NP_001257377.1:p.Lys477Gln