Canonical Allele Identifier: CA115002
Gene: SI HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.165046869A>G
GRCh37 chr3:g.164764657A>G
Revel Score:
ENST00000264382 (MANE Select) 0.966
ClinVar RCV:
RCV000001480
ClinVar Variation:
1415
dbSNP:
121912613
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046869A>G , CM000665.2:g.165046869A>G GRCh38
NC_000003.11:g.164764657A>G , CM000665.1:g.164764657A>G GRCh37
NC_000003.10:g.166247351A>G NCBI36
NG_017043.1:g.36627T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1859T>C MANE Select ENSP00000264382.3:p.Leu620Pro
ENST00000264382.7:c.1859T>C ENSP00000264382.3:p.Leu620Pro
NM_001041.3:c.1859T>C NP_001032.2:p.Leu620Pro
XM_011513078.1:c.1760T>C XP_011511380.1:p.Leu587Pro
XM_011513078.2:c.1760T>C XP_011511380.1:p.Leu587Pro
NM_001041.4:c.1859T>C MANE Select NP_001032.2:p.Leu620Pro
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