Canonical Allele Identifier: CA3432335

Gene: SIL1

Linked Data

• dbSNP Id: rs752866273
• ExAC: 5:138282936 C / T
• gnomAD v2: 5-138282936-C-T
• gnomAD v4: 5-138947247-C-T
• MyVariant Identifiers: chr5:g.138282936C>T (hg19) ; chr5:g.138947247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947247C>T , CM000667.2:g.138947247C>T	GRCh38
NC_000005.9:g.138282936C>T , CM000667.1:g.138282936C>T	GRCh37
NC_000005.8:g.138310835C>T	NCBI36
NG_008112.1:g.256130G>A
NG_008112.2:g.256130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1256G>A MANE Select	ENSP00000378294.2:p.Gly419Asp
ENST00000265195.9:c.1256G>A	ENSP00000265195.5:p.Gly419Asp
ENST00000394817.6:c.1256G>A	ENSP00000378294.2:p.Gly419Asp
ENST00000509534.5:c.1277G>A	ENSP00000426858.1:p.Gly426Asp
ENST00000515008.1:n.591G>A
NM_001037633.1:c.1256G>A	NP_001032722.1:p.Gly419Asp
NM_022464.4:c.1256G>A	NP_071909.1:p.Gly419Asp
XM_011543570.1:c.1286G>A	XP_011541872.1:p.Gly429Asp
XM_011543570.2:c.1286G>A	XP_011541872.1:p.Gly429Asp
XM_024446164.1:c.1256G>A	XP_024301932.1:p.Gly419Asp
NM_022464.5:c.1256G>A MANE Select	NP_071909.1:p.Gly419Asp
NM_001037633.2:c.1256G>A	NP_001032722.1:p.Gly419Asp