Canonical Allele Identifier: CA397723659
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932754
ClinVar RCV Id: RCV001200693
dbSNP Id: rs1197133430
MyVariant Identifiers: chr17:g.7125516T>G (hg19) chr17:g.7222197T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222197T>G , CM000679.2:g.7222197T>G GRCh38
NC_000017.10:g.7125516T>G , CM000679.1:g.7125516T>G GRCh37
NC_000017.9:g.7066240T>G NCBI36
NG_007975.1:g.7364T>G
NG_008391.2:g.2854A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.773T>G MANE Select ENSP00000349297.5:p.Ile258Ser
ENST00000322910.9:c.*728T>G ENSP00000325395.5:n.*728T>G
ENST00000350303.9:c.707T>G ENSP00000344152.5:p.Ile236Ser
ENST00000356839.9:c.773T>G ENSP00000349297.5:p.Ile258Ser
ENST00000543245.6:c.842T>G ENSP00000438689.2:p.Ile281Ser
ENST00000577191.5:n.945T>G
ENST00000581378.5:c.491T>G
ENST00000582379.1:n.157T>G
NM_000018.3:c.773T>G NP_000009.1:p.Ile258Ser
NM_001033859.2:c.707T>G NP_001029031.1:p.Ile236Ser
NM_001270447.1:c.842T>G NP_001257376.1:p.Ile281Ser
NM_001270448.1:c.545T>G NP_001257377.1:p.Ile182Ser
XM_006721516.2:c.773T>G XP_006721579.2:p.Ile258Ser
XM_011523829.1:c.773T>G XP_011522131.1:p.Ile258Ser
XM_011523830.1:c.773T>G XP_011522132.1:p.Ile258Ser
XR_934021.1:n.880T>G
XR_934022.1:n.880T>G
XR_934023.1:n.880T>G
XM_006721516.3:c.773T>G XP_006721579.2:p.Ile258Ser
XM_011523829.2:c.773T>G XP_011522131.1:p.Ile258Ser
XM_011523830.2:c.773T>G XP_011522132.1:p.Ile258Ser
XM_024450741.1:c.773T>G XP_024306509.1:p.Ile258Ser
XR_934021.2:n.832T>G
XR_934022.2:n.832T>G
XR_934023.2:n.832T>G
NM_000018.4:c.773T>G MANE Select NP_000009.1:p.Ile258Ser
NM_001033859.3:c.707T>G NP_001029031.1:p.Ile236Ser
NM_001270447.2:c.842T>G NP_001257376.1:p.Ile281Ser
NM_001270448.2:c.545T>G NP_001257377.1:p.Ile182Ser
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