Canonical Allele Identifier: CA361136627
Gene: SIL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138947268T>A , CM000667.2:g.138947268T>A GRCh38
NC_000005.9:g.138282957T>A , CM000667.1:g.138282957T>A GRCh37
NC_000005.8:g.138310856T>A NCBI36
NG_008112.1:g.256109A>T
NG_008112.2:g.256109A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.1235A>T MANE Select ENSP00000378294.2:p.Tyr412Phe
ENST00000265195.9:c.1235A>T ENSP00000265195.5:p.Tyr412Phe
ENST00000394817.6:c.1235A>T ENSP00000378294.2:p.Tyr412Phe
ENST00000509534.5:c.1256A>T ENSP00000426858.1:p.Tyr419Phe
ENST00000515008.1:n.570A>T
NM_001037633.1:c.1235A>T NP_001032722.1:p.Tyr412Phe
NM_022464.4:c.1235A>T NP_071909.1:p.Tyr412Phe
XM_011543570.1:c.1265A>T XP_011541872.1:p.Tyr422Phe
XM_011543570.2:c.1265A>T XP_011541872.1:p.Tyr422Phe
XM_024446164.1:c.1235A>T XP_024301932.1:p.Tyr412Phe
NM_022464.5:c.1235A>T MANE Select NP_071909.1:p.Tyr412Phe
NM_001037633.2:c.1235A>T NP_001032722.1:p.Tyr412Phe