Canonical Allele Identifier: CA3432339
Gene: SIL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1028266
ClinVar RCV Id: RCV001329281 RCV002473271
dbSNP Id: rs138448654
ExAC: 5:138282954 C / T
gnomAD v2: 5-138282954-C-T
gnomAD v3: 5-138947265-C-T
gnomAD v4: 5-138947265-C-T
COSMIC: COSM3237729
MyVariant Identifiers: chr5:g.138282954C>T (hg19) chr5:g.138947265C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138947265C>T , CM000667.2:g.138947265C>T GRCh38
NC_000005.9:g.138282954C>T , CM000667.1:g.138282954C>T GRCh37
NC_000005.8:g.138310853C>T NCBI36
NG_008112.1:g.256112G>A
NG_008112.2:g.256112G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.1238G>A MANE Select ENSP00000378294.2:p.Arg413His
ENST00000265195.9:c.1238G>A ENSP00000265195.5:p.Arg413His
ENST00000394817.6:c.1238G>A ENSP00000378294.2:p.Arg413His
ENST00000509534.5:c.1259G>A ENSP00000426858.1:p.Arg420His
ENST00000515008.1:n.573G>A
NM_001037633.1:c.1238G>A NP_001032722.1:p.Arg413His
NM_022464.4:c.1238G>A NP_071909.1:p.Arg413His
XM_011543570.1:c.1268G>A XP_011541872.1:p.Arg423His
XM_011543570.2:c.1268G>A XP_011541872.1:p.Arg423His
XM_024446164.1:c.1238G>A XP_024301932.1:p.Arg413His
NM_022464.5:c.1238G>A MANE Select NP_071909.1:p.Arg413His
NM_001037633.2:c.1238G>A NP_001032722.1:p.Arg413His
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