Canonical Allele Identifier: CA361136567
Gene: SIL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138947238A>C , CM000667.2:g.138947238A>C GRCh38
NC_000005.9:g.138282927A>C , CM000667.1:g.138282927A>C GRCh37
NC_000005.8:g.138310826A>C NCBI36
NG_008112.1:g.256139T>G
NG_008112.2:g.256139T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.1265T>G MANE Select ENSP00000378294.2:p.Leu422Arg
ENST00000265195.9:c.1265T>G ENSP00000265195.5:p.Leu422Arg
ENST00000394817.6:c.1265T>G ENSP00000378294.2:p.Leu422Arg
ENST00000509534.5:c.1286T>G ENSP00000426858.1:p.Leu429Arg
ENST00000515008.1:n.600T>G
NM_001037633.1:c.1265T>G NP_001032722.1:p.Leu422Arg
NM_022464.4:c.1265T>G NP_071909.1:p.Leu422Arg
XM_011543570.1:c.1295T>G XP_011541872.1:p.Leu432Arg
XM_011543570.2:c.1295T>G XP_011541872.1:p.Leu432Arg
XM_024446164.1:c.1265T>G XP_024301932.1:p.Leu422Arg
NM_022464.5:c.1265T>G MANE Select NP_071909.1:p.Leu422Arg
NM_001037633.2:c.1265T>G NP_001032722.1:p.Leu422Arg