Canonical Allele Identifier: CA361136432

Gene: SIL1

Linked Data

• dbSNP Id: rs1580971468
• gnomAD v3: 5-138947174-C-G
• gnomAD v4: 5-138947174-C-G
• MyVariant Identifiers: chr5:g.138282863C>G (hg19) ; chr5:g.138947174C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947174C>G , CM000667.2:g.138947174C>G	GRCh38
NC_000005.9:g.138282863C>G , CM000667.1:g.138282863C>G	GRCh37
NC_000005.8:g.138310762C>G	NCBI36
NG_008112.1:g.256203G>C
NG_008112.2:g.256203G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1329G>C MANE Select	ENSP00000378294.2:p.Glu443Asp
ENST00000265195.9:c.1329G>C	ENSP00000265195.5:p.Glu443Asp
ENST00000394817.6:c.1329G>C	ENSP00000378294.2:p.Glu443Asp
ENST00000509534.5:c.1350G>C	ENSP00000426858.1:p.Glu450Asp
ENST00000515008.1:n.664G>C
NM_001037633.1:c.1329G>C	NP_001032722.1:p.Glu443Asp
NM_022464.4:c.1329G>C	NP_071909.1:p.Glu443Asp
XM_011543570.1:c.1359G>C	XP_011541872.1:p.Glu453Asp
XM_011543570.2:c.1359G>C	XP_011541872.1:p.Glu453Asp
XM_024446164.1:c.1329G>C	XP_024301932.1:p.Glu443Asp
NM_022464.5:c.1329G>C MANE Select	NP_071909.1:p.Glu443Asp
NM_001037633.2:c.1329G>C	NP_001032722.1:p.Glu443Asp