Canonical Allele Identifier: CA446718473
Gene: SIL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.138386682T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139050993T>G , CM000667.2:g.139050993T>G GRCh38
NC_000005.9:g.138386682T>G , CM000667.1:g.138386682T>G GRCh37
NC_000005.8:g.138414581T>G NCBI36
NG_008112.1:g.152384A>C
NG_008112.2:g.152384A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.298A>C MANE Select ENSP00000378294.2:p.Arg100=
ENST00000265195.9:c.298A>C ENSP00000265195.5:p.Arg100=
ENST00000394817.6:c.298A>C ENSP00000378294.2:p.Arg100=
ENST00000503732.1:n.125A>C
ENST00000505830.5:c.328A>C ENSP00000426460.1:p.Arg110=
ENST00000507002.5:c.328A>C ENSP00000421890.1:p.Arg110=
ENST00000508639.5:c.298A>C ENSP00000427371.1:p.Arg100=
ENST00000509534.5:c.319A>C ENSP00000426858.1:p.Arg107=
ENST00000513453.5:c.298A>C ENSP00000424014.1:p.Arg100=
NM_001037633.1:c.298A>C NP_001032722.1:p.Arg100=
NM_022464.4:c.298A>C NP_071909.1:p.Arg100=
XM_011543570.1:c.328A>C XP_011541872.1:p.Arg110=
XM_011543570.2:c.328A>C XP_011541872.1:p.Arg110=
XM_024446164.1:c.298A>C XP_024301932.1:p.Arg100=
NM_022464.5:c.298A>C MANE Select NP_071909.1:p.Arg100=
NM_001037633.2:c.298A>C NP_001032722.1:p.Arg100=