Canonical Allele Identifier: CA361136392

Gene: SIL1

Linked Data

• dbSNP Id: rs1159678013
• gnomAD v2: 5-138282847-G-C
• gnomAD v4: 5-138947158-G-C
• MyVariant Identifiers: chr5:g.138282847G>C (hg19) ; chr5:g.138947158G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947158G>C , CM000667.2:g.138947158G>C	GRCh38
NC_000005.9:g.138282847G>C , CM000667.1:g.138282847G>C	GRCh37
NC_000005.8:g.138310746G>C	NCBI36
NG_008112.1:g.256219C>G
NG_008112.2:g.256219C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1345C>G MANE Select	ENSP00000378294.2:p.Leu449Val
ENST00000265195.9:c.1345C>G	ENSP00000265195.5:p.Leu449Val
ENST00000394817.6:c.1345C>G	ENSP00000378294.2:p.Leu449Val
ENST00000509534.5:c.1366C>G	ENSP00000426858.1:p.Leu456Val
ENST00000515008.1:n.680C>G
NM_001037633.1:c.1345C>G	NP_001032722.1:p.Leu449Val
NM_022464.4:c.1345C>G	NP_071909.1:p.Leu449Val
XM_011543570.1:c.1375C>G	XP_011541872.1:p.Leu459Val
XM_011543570.2:c.1375C>G	XP_011541872.1:p.Leu459Val
XM_024446164.1:c.1345C>G	XP_024301932.1:p.Leu449Val
NM_022464.5:c.1345C>G MANE Select	NP_071909.1:p.Leu449Val
NM_001037633.2:c.1345C>G	NP_001032722.1:p.Leu449Val