Canonical Allele Identifier: CA397725470
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1460064
ClinVar RCV Id: RCV001951405
dbSNP Id: rs2142988018
gnomAD v4: 17-7224394-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224394G>T , CM000679.2:g.7224394G>T GRCh38
NC_000017.10:g.7127713G>T , CM000679.1:g.7127713G>T GRCh37
NC_000017.9:g.7068437G>T NCBI36
NG_007975.1:g.9561G>T
NG_008391.2:g.657C>A
NG_033038.1:g.15151C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1605+1G>T MANE Select ENSP00000349297.5:n.1605+1G>T
ENST00000322910.9:c.*1560+1G>T ENSP00000325395.5:n.*1560+1G>T
ENST00000350303.9:c.1539+1G>T ENSP00000344152.5:n.1539+1G>T
ENST00000356839.9:c.1605+1G>T ENSP00000349297.5:n.1605+1G>T
ENST00000542255.6:c.463+1G>T
ENST00000543245.6:c.1674+1G>T ENSP00000438689.2:n.1674+1G>T
ENST00000578319.5:n.101G>T
ENST00000578711.1:n.890G>T
ENST00000578809.5:n.177+1G>T
ENST00000579391.1:n.213+1G>T
ENST00000579425.5:n.721+1G>T
ENST00000579546.1:c.344+1G>T
ENST00000579894.5:n.392+1G>T
ENST00000582450.1:n.113+1G>T
ENST00000583074.5:n.226+1G>T
ENST00000583850.5:n.380+1G>T
ENST00000583858.5:c.536+1G>T
ENST00000585203.6:n.796+1G>T
NM_000018.3:c.1605+1G>T NP_000009.1:n.1605+1G>T
NM_001033859.2:c.1539+1G>T NP_001029031.1:n.1539+1G>T
NM_001270447.1:c.1674+1G>T NP_001257376.1:n.1674+1G>T
NM_001270448.1:c.1377+1G>T NP_001257377.1:n.1377+1G>T
XM_006721516.2:c.1605+1G>T XP_006721579.2:n.1605+1G>T
XM_011523829.1:c.1507+1G>T XP_011522131.1:n.1507+1G>T
XM_011523830.1:c.1507+1G>T XP_011522132.1:n.1507+1G>T
XR_934021.1:n.1712+1G>T
XR_934022.1:n.1614+1G>T
XR_934023.1:n.1614+1G>T
XM_006721516.3:c.1605+1G>T XP_006721579.2:n.1605+1G>T
XM_011523829.2:c.1507+1G>T XP_011522131.1:n.1507+1G>T
XM_011523830.2:c.1507+1G>T XP_011522132.1:n.1507+1G>T
XM_024450741.1:c.1508G>T XP_024306509.1:p.Gly503Val
XR_934021.2:n.1664+1G>T
XR_934022.2:n.1566+1G>T
XR_934023.2:n.1566+1G>T
NM_000018.4:c.1605+1G>T MANE Select NP_000009.1:n.1605+1G>T
NM_001033859.3:c.1539+1G>T NP_001029031.1:n.1539+1G>T
NM_001270447.2:c.1674+1G>T NP_001257376.1:n.1674+1G>T
NM_001270448.2:c.1377+1G>T NP_001257377.1:n.1377+1G>T