Canonical Allele Identifier: CA397725334
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1308433
ClinVar RCV Id: RCV001763345
dbSNP Id: rs2142987648

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224325G>C , CM000679.2:g.7224325G>C GRCh38
NC_000017.10:g.7127644G>C , CM000679.1:g.7127644G>C GRCh37
NC_000017.9:g.7068368G>C NCBI36
NG_007975.1:g.9492G>C
NG_008391.2:g.726C>G
NG_033038.1:g.15220C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1537G>C MANE Select ENSP00000349297.5:p.Ala513Pro
ENST00000322910.9:c.*1492G>C ENSP00000325395.5:n.*1492G>C
ENST00000350303.9:c.1471G>C ENSP00000344152.5:p.Ala491Pro
ENST00000356839.9:c.1537G>C ENSP00000349297.5:p.Ala513Pro
ENST00000542255.6:c.395G>C
ENST00000543245.6:c.1606G>C ENSP00000438689.2:p.Ala536Pro
ENST00000578319.5:n.32G>C
ENST00000578711.1:n.821G>C
ENST00000578809.5:n.109G>C
ENST00000579391.1:n.145G>C
ENST00000579425.5:n.653G>C
ENST00000579546.1:c.276G>C
ENST00000579894.5:n.324G>C
ENST00000582450.1:n.45G>C
ENST00000583074.5:n.158G>C
ENST00000583850.5:n.312G>C
ENST00000583858.5:c.468G>C
ENST00000585203.6:n.728G>C
NM_000018.3:c.1537G>C NP_000009.1:p.Ala513Pro
NM_001033859.2:c.1471G>C NP_001029031.1:p.Ala491Pro
NM_001270447.1:c.1606G>C NP_001257376.1:p.Ala536Pro
NM_001270448.1:c.1309G>C NP_001257377.1:p.Ala437Pro
XM_006721516.2:c.1537G>C XP_006721579.2:p.Ala513Pro
XM_011523829.1:c.1439G>C XP_011522131.1:p.Gly480Ala
XM_011523830.1:c.1439G>C XP_011522132.1:p.Gly480Ala
XR_934021.1:n.1644G>C
XR_934022.1:n.1546G>C
XR_934023.1:n.1546G>C
XM_006721516.3:c.1537G>C XP_006721579.2:p.Ala513Pro
XM_011523829.2:c.1439G>C XP_011522131.1:p.Gly480Ala
XM_011523830.2:c.1439G>C XP_011522132.1:p.Gly480Ala
XM_024450741.1:c.1439G>C XP_024306509.1:p.Gly480Ala
XR_934021.2:n.1596G>C
XR_934022.2:n.1498G>C
XR_934023.2:n.1498G>C
NM_000018.4:c.1537G>C MANE Select NP_000009.1:p.Ala513Pro
NM_001033859.3:c.1471G>C NP_001029031.1:p.Ala491Pro
NM_001270447.2:c.1606G>C NP_001257376.1:p.Ala536Pro
NM_001270448.2:c.1309G>C NP_001257377.1:p.Ala437Pro