Canonical Allele Identifier: CA3432663
Gene: SIL1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.139121083C>T
GRCh37 chr5:g.138456772C>T
Revel Score:
ENST00000394817 (MANE Select) 0.074
ENST00000265195 0.074
ENST00000537511 0.074
ENST00000509534 0.074
ENST00000508639 0.074
ENST00000513453 0.074
ENST00000507002 0.074
ENST00000505830 0.074
ENST00000505353 0.074
gnomAD v2:
5:138456772 C / T
gnomAD v3:
5:139121083 C / T
gnomAD v4:
chr5-139121083-C-T
Joint Max Group AF 0.00035935 (AMR)
Genomes Max Group AF 0.0008669 (AMR)
Exomes Max Group AF 0.00012058 (AMR)
ClinVar RCV:
RCV000367526
ClinVar Variation:
351098
dbSNP:
147194912
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139121083C>T , CM000667.2:g.139121083C>T GRCh38
NC_000005.9:g.138456772C>T , CM000667.1:g.138456772C>T GRCh37
NC_000005.8:g.138484671C>T NCBI36
NG_008112.1:g.82294G>A
NG_008112.2:g.82294G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.196G>A MANE Select ENSP00000378294.2:p.Val66Ile
ENST00000265195.9:c.196G>A ENSP00000265195.5:p.Val66Ile
ENST00000394817.6:c.196G>A ENSP00000378294.2:p.Val66Ile
ENST00000504666.5:n.294G>A
ENST00000505353.1:c.196G>A ENSP00000423662.1:p.Val66Ile
ENST00000505830.5:c.226G>A ENSP00000426460.1:p.Val76Ile
ENST00000507002.5:c.226G>A ENSP00000421890.1:p.Val76Ile
ENST00000508639.5:c.196G>A ENSP00000427371.1:p.Val66Ile
ENST00000509400.5:n.499G>A
ENST00000509534.5:c.217G>A ENSP00000426858.1:p.Val73Ile
ENST00000513453.5:c.196G>A ENSP00000424014.1:p.Val66Ile
NM_001037633.1:c.196G>A NP_001032722.1:p.Val66Ile
NM_022464.4:c.196G>A NP_071909.1:p.Val66Ile
XM_011543570.1:c.226G>A XP_011541872.1:p.Val76Ile
XM_011543570.2:c.226G>A XP_011541872.1:p.Val76Ile
XM_024446164.1:c.196G>A XP_024301932.1:p.Val66Ile
NM_022464.5:c.196G>A MANE Select NP_071909.1:p.Val66Ile
NM_001037633.2:c.196G>A NP_001032722.1:p.Val66Ile
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