Canonical Allele Identifier: CA3432332

Gene: SIL1

Linked Data

• dbSNP Id: rs776810332
• ExAC: 5:138282914 C / G
• gnomAD v2: 5-138282914-C-G
• gnomAD v4: 5-138947225-C-G
• MyVariant Identifiers: chr5:g.138282914C>G (hg19) ; chr5:g.138947225C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947225C>G , CM000667.2:g.138947225C>G	GRCh38
NC_000005.9:g.138282914C>G , CM000667.1:g.138282914C>G	GRCh37
NC_000005.8:g.138310813C>G	NCBI36
NG_008112.1:g.256152G>C
NG_008112.2:g.256152G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1278G>C MANE Select	ENSP00000378294.2:p.Gln426His
ENST00000265195.9:c.1278G>C	ENSP00000265195.5:p.Gln426His
ENST00000394817.6:c.1278G>C	ENSP00000378294.2:p.Gln426His
ENST00000509534.5:c.1299G>C	ENSP00000426858.1:p.Gln433His
ENST00000515008.1:n.613G>C
NM_001037633.1:c.1278G>C	NP_001032722.1:p.Gln426His
NM_022464.4:c.1278G>C	NP_071909.1:p.Gln426His
XM_011543570.1:c.1308G>C	XP_011541872.1:p.Gln436His
XM_011543570.2:c.1308G>C	XP_011541872.1:p.Gln436His
XM_024446164.1:c.1278G>C	XP_024301932.1:p.Gln426His
NM_022464.5:c.1278G>C MANE Select	NP_071909.1:p.Gln426His
NM_001037633.2:c.1278G>C	NP_001032722.1:p.Gln426His