Canonical Allele Identifier: CA287440321
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs979305006
gnomAD v4: 17-7224398-G-A
MyVariant Identifiers: chr17:g.7127717G>A (hg19) chr17:g.7224398G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224398G>A , CM000679.2:g.7224398G>A GRCh38
NC_000017.10:g.7127717G>A , CM000679.1:g.7127717G>A GRCh37
NC_000017.9:g.7068441G>A NCBI36
NG_007975.1:g.9565G>A
NG_008391.2:g.653C>T
NG_033038.1:g.15147C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1605+5G>A MANE Select ENSP00000349297.5:n.1605+5G>A
ENST00000322910.9:c.*1560+5G>A ENSP00000325395.5:n.*1560+5G>A
ENST00000350303.9:c.1539+5G>A ENSP00000344152.5:n.1539+5G>A
ENST00000356839.9:c.1605+5G>A ENSP00000349297.5:n.1605+5G>A
ENST00000542255.6:c.463+5G>A
ENST00000543245.6:c.1674+5G>A ENSP00000438689.2:n.1674+5G>A
ENST00000578319.5:n.105G>A
ENST00000578711.1:n.894G>A
ENST00000578809.5:n.177+5G>A
ENST00000579391.1:n.213+5G>A
ENST00000579425.5:n.721+5G>A
ENST00000579546.1:c.344+5G>A
ENST00000579894.5:n.392+5G>A
ENST00000582450.1:n.113+5G>A
ENST00000583074.5:n.226+5G>A
ENST00000583850.5:n.380+5G>A
ENST00000583858.5:c.536+5G>A
ENST00000585203.6:n.796+5G>A
NM_000018.3:c.1605+5G>A NP_000009.1:n.1605+5G>A
NM_001033859.2:c.1539+5G>A NP_001029031.1:n.1539+5G>A
NM_001270447.1:c.1674+5G>A NP_001257376.1:n.1674+5G>A
NM_001270448.1:c.1377+5G>A NP_001257377.1:n.1377+5G>A
XM_006721516.2:c.1605+5G>A XP_006721579.2:n.1605+5G>A
XM_011523829.1:c.1507+5G>A XP_011522131.1:n.1507+5G>A
XM_011523830.1:c.1507+5G>A XP_011522132.1:n.1507+5G>A
XR_934021.1:n.1712+5G>A
XR_934022.1:n.1614+5G>A
XR_934023.1:n.1614+5G>A
XM_006721516.3:c.1605+5G>A XP_006721579.2:n.1605+5G>A
XM_011523829.2:c.1507+5G>A XP_011522131.1:n.1507+5G>A
XM_011523830.2:c.1507+5G>A XP_011522132.1:n.1507+5G>A
XM_024450741.1:c.1512G>A XP_024306509.1:p.Lys504=
XR_934021.2:n.1664+5G>A
XR_934022.2:n.1566+5G>A
XR_934023.2:n.1566+5G>A
NM_000018.4:c.1605+5G>A MANE Select NP_000009.1:n.1605+5G>A
NM_001033859.3:c.1539+5G>A NP_001029031.1:n.1539+5G>A
NM_001270447.2:c.1674+5G>A NP_001257376.1:n.1674+5G>A
NM_001270448.2:c.1377+5G>A NP_001257377.1:n.1377+5G>A
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