Canonical Allele Identifier: CA361136537
Gene: SIL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138947223G>A , CM000667.2:g.138947223G>A GRCh38
NC_000005.9:g.138282912G>A , CM000667.1:g.138282912G>A GRCh37
NC_000005.8:g.138310811G>A NCBI36
NG_008112.1:g.256154C>T
NG_008112.2:g.256154C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.1280C>T MANE Select ENSP00000378294.2:p.Ala427Val
ENST00000265195.9:c.1280C>T ENSP00000265195.5:p.Ala427Val
ENST00000394817.6:c.1280C>T ENSP00000378294.2:p.Ala427Val
ENST00000509534.5:c.1301C>T ENSP00000426858.1:p.Ala434Val
ENST00000515008.1:n.615C>T
NM_001037633.1:c.1280C>T NP_001032722.1:p.Ala427Val
NM_022464.4:c.1280C>T NP_071909.1:p.Ala427Val
XM_011543570.1:c.1310C>T XP_011541872.1:p.Ala437Val
XM_011543570.2:c.1310C>T XP_011541872.1:p.Ala437Val
XM_024446164.1:c.1280C>T XP_024301932.1:p.Ala427Val
NM_022464.5:c.1280C>T MANE Select NP_071909.1:p.Ala427Val
NM_001037633.2:c.1280C>T NP_001032722.1:p.Ala427Val