Canonical Allele Identifier: CA3432323
Gene: SIL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286537
ClinVar RCV Id: RCV000291218 RCV000632077 RCV001079025 RCV003930122
dbSNP Id: rs34214251
ExAC: 5:138282841 C / T
gnomAD v2: 5-138282841-C-T
gnomAD v3: 5-138947152-C-T
gnomAD v4: 5-138947152-C-T
MyVariant Identifiers: chr5:g.138282841C>T (hg19) chr5:g.138947152C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138947152C>T , CM000667.2:g.138947152C>T GRCh38
NC_000005.9:g.138282841C>T , CM000667.1:g.138282841C>T GRCh37
NC_000005.8:g.138310740C>T NCBI36
NG_008112.1:g.256225G>A
NG_008112.2:g.256225G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.1351G>A MANE Select ENSP00000378294.2:p.Gly451Ser
ENST00000265195.9:c.1351G>A ENSP00000265195.5:p.Gly451Ser
ENST00000394817.6:c.1351G>A ENSP00000378294.2:p.Gly451Ser
ENST00000509534.5:c.1372G>A ENSP00000426858.1:p.Gly458Ser
ENST00000515008.1:n.686G>A
NM_001037633.1:c.1351G>A NP_001032722.1:p.Gly451Ser
NM_022464.4:c.1351G>A NP_071909.1:p.Gly451Ser
XM_011543570.1:c.1381G>A XP_011541872.1:p.Gly461Ser
XM_011543570.2:c.1381G>A XP_011541872.1:p.Gly461Ser
XM_024446164.1:c.1351G>A XP_024301932.1:p.Gly451Ser
NM_022464.5:c.1351G>A MANE Select NP_071909.1:p.Gly451Ser
NM_001037633.2:c.1351G>A NP_001032722.1:p.Gly451Ser
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