Canonical Allele Identifier: CA497694252
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071364748
gnomAD v4: 17-7224193-C-A
MyVariant Identifiers: chr17:g.7127512C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224193C>A , CM000679.2:g.7224193C>A GRCh38
NC_000017.10:g.7127512C>A , CM000679.1:g.7127512C>A GRCh37
NC_000017.9:g.7068236C>A NCBI36
NG_007975.1:g.9360C>A
NG_008391.2:g.858G>T
NG_033038.1:g.15352G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1482C>A MANE Select ENSP00000349297.5:p.Pro494=
ENST00000322910.9:c.*1437C>A ENSP00000325395.5:n.*1437C>A
ENST00000350303.9:c.1416C>A ENSP00000344152.5:p.Pro472=
ENST00000356839.9:c.1482C>A ENSP00000349297.5:p.Pro494=
ENST00000542255.6:c.340C>A
ENST00000543245.6:c.1551C>A ENSP00000438689.2:p.Pro517=
ENST00000578711.1:n.689C>A
ENST00000579391.1:n.90C>A
ENST00000579425.5:n.598C>A
ENST00000579546.1:c.271+124C>A
ENST00000579894.5:n.269C>A
ENST00000583074.5:n.153+124C>A
ENST00000583850.5:n.257C>A
ENST00000583858.5:c.463+124C>A
ENST00000585203.6:n.673C>A
NM_000018.3:c.1482C>A NP_000009.1:p.Pro494=
NM_001033859.2:c.1416C>A NP_001029031.1:p.Pro472=
NM_001270447.1:c.1551C>A NP_001257376.1:p.Pro517=
NM_001270448.1:c.1254C>A NP_001257377.1:p.Pro418=
XM_006721516.2:c.1482C>A XP_006721579.2:p.Pro494=
XM_011523829.1:c.1434+124C>A XP_011522131.1:n.1434+124C>A
XM_011523830.1:c.1434+124C>A XP_011522132.1:n.1434+124C>A
XR_934021.1:n.1589C>A
XR_934022.1:n.1541+124C>A
XR_934023.1:n.1541+124C>A
XM_006721516.3:c.1482C>A XP_006721579.2:p.Pro494=
XM_011523829.2:c.1434+124C>A XP_011522131.1:n.1434+124C>A
XM_011523830.2:c.1434+124C>A XP_011522132.1:n.1434+124C>A
XM_024450741.1:c.1434+124C>A XP_024306509.1:n.1434+124C>A
XR_934021.2:n.1541C>A
XR_934022.2:n.1493+124C>A
XR_934023.2:n.1493+124C>A
NM_000018.4:c.1482C>A MANE Select NP_000009.1:p.Pro494=
NM_001033859.3:c.1416C>A NP_001029031.1:p.Pro472=
NM_001270447.2:c.1551C>A NP_001257376.1:p.Pro517=
NM_001270448.2:c.1254C>A NP_001257377.1:p.Pro418=
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