Canonical Allele Identifier: CA3432343

Gene: SIL1

Linked Data

• ClinVar Variation Id: 2435943
• ClinVar RCV Id: RCV003136693
• dbSNP Id: rs142943842
• ExAC: 5:138282961 G / C
• gnomAD v2: 5-138282961-G-C
• gnomAD v3: 5-138947272-G-C
• gnomAD v4: 5-138947272-G-C
• MyVariant Identifiers: chr5:g.138282961G>C (hg19) ; chr5:g.138947272G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947272G>C , CM000667.2:g.138947272G>C	GRCh38
NC_000005.9:g.138282961G>C , CM000667.1:g.138282961G>C	GRCh37
NC_000005.8:g.138310860G>C	NCBI36
NG_008112.1:g.256105C>G
NG_008112.2:g.256105C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1231C>G MANE Select	ENSP00000378294.2:p.Arg411Gly
ENST00000265195.9:c.1231C>G	ENSP00000265195.5:p.Arg411Gly
ENST00000394817.6:c.1231C>G	ENSP00000378294.2:p.Arg411Gly
ENST00000509534.5:c.1252C>G	ENSP00000426858.1:p.Arg418Gly
ENST00000515008.1:n.566C>G
NM_001037633.1:c.1231C>G	NP_001032722.1:p.Arg411Gly
NM_022464.4:c.1231C>G	NP_071909.1:p.Arg411Gly
XM_011543570.1:c.1261C>G	XP_011541872.1:p.Arg421Gly
XM_011543570.2:c.1261C>G	XP_011541872.1:p.Arg421Gly
XM_024446164.1:c.1231C>G	XP_024301932.1:p.Arg411Gly
NM_022464.5:c.1231C>G MANE Select	NP_071909.1:p.Arg411Gly
NM_001037633.2:c.1231C>G	NP_001032722.1:p.Arg411Gly