Canonical Allele Identifier: CA397724574
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs767552054
gnomAD v3: 17-7223658-G-A
gnomAD v4: 17-7223658-G-A
MyVariant Identifiers: chr17:g.7126977G>A (hg19) chr17:g.7223658G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223658G>A , CM000679.2:g.7223658G>A GRCh38
NC_000017.10:g.7126977G>A , CM000679.1:g.7126977G>A GRCh37
NC_000017.9:g.7067701G>A NCBI36
NG_007975.1:g.8825G>A
NG_008391.2:g.1393C>T
NG_033038.1:g.15887C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1197G>A MANE Select ENSP00000349297.5:p.Met399Ile
ENST00000322910.9:c.*1152G>A ENSP00000325395.5:n.*1152G>A
ENST00000350303.9:c.1131G>A ENSP00000344152.5:p.Met377Ile
ENST00000356839.9:c.1197G>A ENSP00000349297.5:p.Met399Ile
ENST00000542255.6:c.55G>A
ENST00000543245.6:c.1266G>A ENSP00000438689.2:p.Met422Ile
ENST00000578579.2:n.368G>A
ENST00000578711.1:n.154G>A
ENST00000578824.5:n.613G>A
ENST00000579425.5:n.221G>A
ENST00000579546.1:c.34G>A
ENST00000583858.5:c.226G>A
ENST00000585203.6:n.405G>A
NM_000018.3:c.1197G>A NP_000009.1:p.Met399Ile
NM_001033859.2:c.1131G>A NP_001029031.1:p.Met377Ile
NM_001270447.1:c.1266G>A NP_001257376.1:p.Met422Ile
NM_001270448.1:c.969G>A NP_001257377.1:p.Met323Ile
XM_006721516.2:c.1197G>A XP_006721579.2:p.Met399Ile
XM_011523829.1:c.1197G>A XP_011522131.1:p.Met399Ile
XM_011523830.1:c.1197G>A XP_011522132.1:p.Met399Ile
XR_934021.1:n.1304G>A
XR_934022.1:n.1304G>A
XR_934023.1:n.1304G>A
XM_006721516.3:c.1197G>A XP_006721579.2:p.Met399Ile
XM_011523829.2:c.1197G>A XP_011522131.1:p.Met399Ile
XM_011523830.2:c.1197G>A XP_011522132.1:p.Met399Ile
XM_024450741.1:c.1197G>A XP_024306509.1:p.Met399Ile
XR_934021.2:n.1256G>A
XR_934022.2:n.1256G>A
XR_934023.2:n.1256G>A
NM_000018.4:c.1197G>A MANE Select NP_000009.1:p.Met399Ile
NM_001033859.3:c.1131G>A NP_001029031.1:p.Met377Ile
NM_001270447.2:c.1266G>A NP_001257376.1:p.Met422Ile
NM_001270448.2:c.969G>A NP_001257377.1:p.Met323Ile
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