Canonical Allele Identifier: CA624860736
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1371164108
gnomAD v2: 17-7127729-C-T
gnomAD v4: 17-7224410-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224410C>T , CM000679.2:g.7224410C>T GRCh38
NC_000017.10:g.7127729C>T , CM000679.1:g.7127729C>T GRCh37
NC_000017.9:g.7068453C>T NCBI36
NG_007975.1:g.9577C>T
NG_008391.2:g.641G>A
NG_033038.1:g.15135G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1605+17C>T MANE Select ENSP00000349297.5:n.1605+17C>T
ENST00000322910.9:c.*1560+17C>T ENSP00000325395.5:n.*1560+17C>T
ENST00000350303.9:c.1539+17C>T ENSP00000344152.5:n.1539+17C>T
ENST00000356839.9:c.1605+17C>T ENSP00000349297.5:n.1605+17C>T
ENST00000542255.6:c.463+17C>T
ENST00000543245.6:c.1674+17C>T ENSP00000438689.2:n.1674+17C>T
ENST00000578319.5:n.117C>T
ENST00000578711.1:n.906C>T
ENST00000578809.5:n.177+17C>T
ENST00000579391.1:n.213+17C>T
ENST00000579425.5:n.721+17C>T
ENST00000579546.1:c.344+17C>T
ENST00000579894.5:n.392+17C>T
ENST00000582450.1:n.113+17C>T
ENST00000583074.5:n.226+17C>T
ENST00000583850.5:n.380+17C>T
ENST00000583858.5:c.536+17C>T
ENST00000585203.6:n.796+17C>T
NM_000018.3:c.1605+17C>T NP_000009.1:n.1605+17C>T
NM_001033859.2:c.1539+17C>T NP_001029031.1:n.1539+17C>T
NM_001270447.1:c.1674+17C>T NP_001257376.1:n.1674+17C>T
NM_001270448.1:c.1377+17C>T NP_001257377.1:n.1377+17C>T
XM_006721516.2:c.1605+17C>T XP_006721579.2:n.1605+17C>T
XM_011523829.1:c.1507+17C>T XP_011522131.1:n.1507+17C>T
XM_011523830.1:c.1507+17C>T XP_011522132.1:n.1507+17C>T
XR_934021.1:n.1712+17C>T
XR_934022.1:n.1614+17C>T
XR_934023.1:n.1614+17C>T
XM_006721516.3:c.1605+17C>T XP_006721579.2:n.1605+17C>T
XM_011523829.2:c.1507+17C>T XP_011522131.1:n.1507+17C>T
XM_011523830.2:c.1507+17C>T XP_011522132.1:n.1507+17C>T
XM_024450741.1:c.1524C>T XP_024306509.1:p.Val508=
XR_934021.2:n.1664+17C>T
XR_934022.2:n.1566+17C>T
XR_934023.2:n.1566+17C>T
NM_000018.4:c.1605+17C>T MANE Select NP_000009.1:n.1605+17C>T
NM_001033859.3:c.1539+17C>T NP_001029031.1:n.1539+17C>T
NM_001270447.2:c.1674+17C>T NP_001257376.1:n.1674+17C>T
NM_001270448.2:c.1377+17C>T NP_001257377.1:n.1377+17C>T