Canonical Allele Identifier: CA128235943

Gene: SIL1

Linked Data

• dbSNP Id: rs897326843
• gnomAD v3: 5-138946727-G-T
• gnomAD v4: 5-138946727-G-T
• MyVariant Identifiers: chr5:g.138282416G>T (hg19) ; chr5:g.138946727G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946727G>T , CM000667.2:g.138946727G>T	GRCh38
NC_000005.9:g.138282416G>T , CM000667.1:g.138282416G>T	GRCh37
NC_000005.8:g.138310315G>T	NCBI36
NG_008112.1:g.256650C>A
NG_008112.2:g.256650C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*390C>A MANE Select	ENSP00000378294.2:n.*390C>A
ENST00000394817.6:c.*390C>A	ENSP00000378294.2:n.*390C>A
NM_001037633.1:c.*390C>A	NP_001032722.1:n.*390C>A
NM_022464.4:c.*390C>A	NP_071909.1:n.*390C>A
XM_011543570.2:c.*390C>A	XP_011541872.1:n.*390C>A
XM_024446164.1:c.*390C>A	XP_024301932.1:n.*390C>A
NM_022464.5:c.*390C>A MANE Select	NP_071909.1:n.*390C>A
NM_001037633.2:c.*390C>A	NP_001032722.1:n.*390C>A