Canonical Allele Identifier: CA361137667

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138951286C>T , CM000667.2:g.138951286C>T	GRCh38
NC_000005.9:g.138286975C>T , CM000667.1:g.138286975C>T	GRCh37
NC_000005.8:g.138314874C>T	NCBI36
NG_008112.1:g.252091G>A
NG_008112.2:g.252091G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022464.5:c.914G>A MANE Select	NP_071909.1:p.Arg305Gln
ENST00000394817.7:c.914G>A MANE Select	ENSP00000378294.2:p.Arg305Gln
NM_001037633.1:c.914G>A	NP_001032722.1:p.Arg305Gln
NM_001037633.2:c.914G>A	NP_001032722.1:p.Arg305Gln
NM_022464.4:c.914G>A	NP_071909.1:p.Arg305Gln
ENST00000265195.9:c.914G>A	ENSP00000265195.5:p.Arg305Gln
ENST00000394817.6:c.914G>A	ENSP00000378294.2:p.Arg305Gln
ENST00000509534.5:c.935G>A	ENSP00000426858.1:p.Arg312Gln
ENST00000515008.1:n.249G>A
XM_011543570.1:c.944G>A	XP_011541872.1:p.Arg315Gln
XM_011543570.2:c.944G>A	XP_011541872.1:p.Arg315Gln
XM_024446164.1:c.914G>A	XP_024301932.1:p.Arg305Gln