Canonical Allele Identifier: CA16607509
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 385671
ClinVar RCV Id: RCV000420270
dbSNP Id: rs745355288
MyVariant Identifiers: chr17:g.7127016G>A (hg19) chr17:g.7223697G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223697G>A , CM000679.2:g.7223697G>A GRCh38
NC_000017.10:g.7127016G>A , CM000679.1:g.7127016G>A GRCh37
NC_000017.9:g.7067740G>A NCBI36
NG_007975.1:g.8864G>A
NG_008391.2:g.1354C>T
NG_033038.1:g.15848C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1236G>A MANE Select ENSP00000349297.5:p.Gln412=
ENST00000322910.9:c.*1191G>A ENSP00000325395.5:n.*1191G>A
ENST00000350303.9:c.1170G>A ENSP00000344152.5:p.Gln390=
ENST00000356839.9:c.1236G>A ENSP00000349297.5:p.Gln412=
ENST00000542255.6:c.94G>A
ENST00000543245.6:c.1305G>A ENSP00000438689.2:p.Gln435=
ENST00000578579.2:n.407G>A
ENST00000578711.1:n.193G>A
ENST00000578824.5:n.652G>A
ENST00000579425.5:n.260G>A
ENST00000579546.1:c.73G>A
ENST00000583850.5:n.11G>A
ENST00000583858.5:c.265G>A
ENST00000585203.6:n.444G>A
NM_000018.3:c.1236G>A NP_000009.1:p.Gln412=
NM_001033859.2:c.1170G>A NP_001029031.1:p.Gln390=
NM_001270447.1:c.1305G>A NP_001257376.1:p.Gln435=
NM_001270448.1:c.1008G>A NP_001257377.1:p.Gln336=
XM_006721516.2:c.1236G>A XP_006721579.2:p.Gln412=
XM_011523829.1:c.1236G>A XP_011522131.1:p.Gln412=
XM_011523830.1:c.1236G>A XP_011522132.1:p.Gln412=
XR_934021.1:n.1343G>A
XR_934022.1:n.1343G>A
XR_934023.1:n.1343G>A
XM_006721516.3:c.1236G>A XP_006721579.2:p.Gln412=
XM_011523829.2:c.1236G>A XP_011522131.1:p.Gln412=
XM_011523830.2:c.1236G>A XP_011522132.1:p.Gln412=
XM_024450741.1:c.1236G>A XP_024306509.1:p.Gln412=
XR_934021.2:n.1295G>A
XR_934022.2:n.1295G>A
XR_934023.2:n.1295G>A
NM_000018.4:c.1236G>A MANE Select NP_000009.1:p.Gln412=
NM_001033859.3:c.1170G>A NP_001029031.1:p.Gln390=
NM_001270447.2:c.1305G>A NP_001257376.1:p.Gln435=
NM_001270448.2:c.1008G>A NP_001257377.1:p.Gln336=
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