Canonical Allele Identifier: CA497620196
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222718-G-T
MyVariant Identifiers: chr17:g.7126037G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222718G>T , CM000679.2:g.7222718G>T GRCh38
NC_000017.10:g.7126037G>T , CM000679.1:g.7126037G>T GRCh37
NC_000017.9:g.7066761G>T NCBI36
NG_007975.1:g.7885G>T
NG_008391.2:g.2333C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.930G>T MANE Select ENSP00000349297.5:p.Val310=
ENST00000322910.9:c.*885G>T ENSP00000325395.5:n.*885G>T
ENST00000350303.9:c.864G>T ENSP00000344152.5:p.Val288=
ENST00000356839.9:c.930G>T ENSP00000349297.5:p.Val310=
ENST00000543245.6:c.999G>T ENSP00000438689.2:p.Val333=
ENST00000578824.5:n.79G>T
ENST00000581378.5:c.648G>T
ENST00000582379.1:n.314G>T
NM_000018.3:c.930G>T NP_000009.1:p.Val310=
NM_001033859.2:c.864G>T NP_001029031.1:p.Val288=
NM_001270447.1:c.999G>T NP_001257376.1:p.Val333=
NM_001270448.1:c.702G>T NP_001257377.1:p.Val234=
XM_006721516.2:c.930G>T XP_006721579.2:p.Val310=
XM_011523829.1:c.930G>T XP_011522131.1:p.Val310=
XM_011523830.1:c.930G>T XP_011522132.1:p.Val310=
XR_934021.1:n.1037G>T
XR_934022.1:n.1037G>T
XR_934023.1:n.1037G>T
XM_006721516.3:c.930G>T XP_006721579.2:p.Val310=
XM_011523829.2:c.930G>T XP_011522131.1:p.Val310=
XM_011523830.2:c.930G>T XP_011522132.1:p.Val310=
XM_024450741.1:c.930G>T XP_024306509.1:p.Val310=
XR_934021.2:n.989G>T
XR_934022.2:n.989G>T
XR_934023.2:n.989G>T
NM_000018.4:c.930G>T MANE Select NP_000009.1:p.Val310=
NM_001033859.3:c.864G>T NP_001029031.1:p.Val288=
NM_001270447.2:c.999G>T NP_001257376.1:p.Val333=
NM_001270448.2:c.702G>T NP_001257377.1:p.Val234=
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