Canonical Allele Identifier: CA624860761
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1197949658
gnomAD v2: 17-7127738-C-G
gnomAD v4: 17-7224419-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224419C>G , CM000679.2:g.7224419C>G GRCh38
NC_000017.10:g.7127738C>G , CM000679.1:g.7127738C>G GRCh37
NC_000017.9:g.7068462C>G NCBI36
NG_007975.1:g.9586C>G
NG_008391.2:g.632G>C
NG_033038.1:g.15126G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1605+26C>G MANE Select ENSP00000349297.5:n.1605+26C>G
ENST00000322910.9:c.*1560+26C>G ENSP00000325395.5:n.*1560+26C>G
ENST00000350303.9:c.1539+26C>G ENSP00000344152.5:n.1539+26C>G
ENST00000356839.9:c.1605+26C>G ENSP00000349297.5:n.1605+26C>G
ENST00000542255.6:c.463+26C>G
ENST00000543245.6:c.1674+26C>G ENSP00000438689.2:n.1674+26C>G
ENST00000578319.5:n.126C>G
ENST00000578711.1:n.915C>G
ENST00000578809.5:n.177+26C>G
ENST00000579391.1:n.213+26C>G
ENST00000579425.5:n.721+26C>G
ENST00000579546.1:c.344+26C>G
ENST00000579894.5:n.392+26C>G
ENST00000582450.1:n.113+26C>G
ENST00000583074.5:n.226+26C>G
ENST00000583850.5:n.380+26C>G
ENST00000583858.5:c.536+26C>G
ENST00000585203.6:n.796+26C>G
NM_000018.3:c.1605+26C>G NP_000009.1:n.1605+26C>G
NM_001033859.2:c.1539+26C>G NP_001029031.1:n.1539+26C>G
NM_001270447.1:c.1674+26C>G NP_001257376.1:n.1674+26C>G
NM_001270448.1:c.1377+26C>G NP_001257377.1:n.1377+26C>G
XM_006721516.2:c.1605+26C>G XP_006721579.2:n.1605+26C>G
XM_011523829.1:c.1507+26C>G XP_011522131.1:n.1507+26C>G
XM_011523830.1:c.1507+26C>G XP_011522132.1:n.1507+26C>G
XR_934021.1:n.1712+26C>G
XR_934022.1:n.1614+26C>G
XR_934023.1:n.1614+26C>G
XM_006721516.3:c.1605+26C>G XP_006721579.2:n.1605+26C>G
XM_011523829.2:c.1507+26C>G XP_011522131.1:n.1507+26C>G
XM_011523830.2:c.1507+26C>G XP_011522132.1:n.1507+26C>G
XM_024450741.1:c.1533C>G XP_024306509.1:p.Ser511Arg
XR_934021.2:n.1664+26C>G
XR_934022.2:n.1566+26C>G
XR_934023.2:n.1566+26C>G
NM_000018.4:c.1605+26C>G MANE Select NP_000009.1:n.1605+26C>G
NM_001033859.3:c.1539+26C>G NP_001029031.1:n.1539+26C>G
NM_001270447.2:c.1674+26C>G NP_001257376.1:n.1674+26C>G
NM_001270448.2:c.1377+26C>G NP_001257377.1:n.1377+26C>G