Canonical Allele Identifier: CA361136651
Gene: SIL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 444662
ClinVar RCV Id: RCV000513539
dbSNP Id: rs1205787396

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138947280C>T , CM000667.2:g.138947280C>T GRCh38
NC_000005.9:g.138282969C>T , CM000667.1:g.138282969C>T GRCh37
NC_000005.8:g.138310868C>T NCBI36
NG_008112.1:g.256097G>A
NG_008112.2:g.256097G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.1223G>A MANE Select ENSP00000378294.2:p.Cys408Tyr
ENST00000265195.9:c.1223G>A ENSP00000265195.5:p.Cys408Tyr
ENST00000394817.6:c.1223G>A ENSP00000378294.2:p.Cys408Tyr
ENST00000509534.5:c.1244G>A ENSP00000426858.1:p.Cys415Tyr
ENST00000515008.1:n.558G>A
NM_001037633.1:c.1223G>A NP_001032722.1:p.Cys408Tyr
NM_022464.4:c.1223G>A NP_071909.1:p.Cys408Tyr
XM_011543570.1:c.1253G>A XP_011541872.1:p.Cys418Tyr
XM_011543570.2:c.1253G>A XP_011541872.1:p.Cys418Tyr
XM_024446164.1:c.1223G>A XP_024301932.1:p.Cys408Tyr
NM_022464.5:c.1223G>A MANE Select NP_071909.1:p.Cys408Tyr
NM_001037633.2:c.1223G>A NP_001032722.1:p.Cys408Tyr