Canonical Allele Identifier: CA361136667
Gene: SIL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138947289A>C , CM000667.2:g.138947289A>C GRCh38
NC_000005.9:g.138282978A>C , CM000667.1:g.138282978A>C GRCh37
NC_000005.8:g.138310877A>C NCBI36
NG_008112.1:g.256088T>G
NG_008112.2:g.256088T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.1214T>G MANE Select ENSP00000378294.2:p.Leu405Arg
ENST00000265195.9:c.1214T>G ENSP00000265195.5:p.Leu405Arg
ENST00000394817.6:c.1214T>G ENSP00000378294.2:p.Leu405Arg
ENST00000509534.5:c.1235T>G ENSP00000426858.1:p.Leu412Arg
ENST00000515008.1:n.549T>G
NM_001037633.1:c.1214T>G NP_001032722.1:p.Leu405Arg
NM_022464.4:c.1214T>G NP_071909.1:p.Leu405Arg
XM_011543570.1:c.1244T>G XP_011541872.1:p.Leu415Arg
XM_011543570.2:c.1244T>G XP_011541872.1:p.Leu415Arg
XM_024446164.1:c.1214T>G XP_024301932.1:p.Leu405Arg
NM_022464.5:c.1214T>G MANE Select NP_071909.1:p.Leu405Arg
NM_001037633.2:c.1214T>G NP_001032722.1:p.Leu405Arg