Canonical Allele Identifier: CA1082073182

Gene: SIL1

Linked Data

• dbSNP Id: rs1766643830
• gnomAD v3: 5-138947032-G-C
• gnomAD v4: 5-138947032-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947032G>C , CM000667.2:g.138947032G>C	GRCh38
NC_000005.9:g.138282721G>C , CM000667.1:g.138282721G>C	GRCh37
NC_000005.8:g.138310620G>C	NCBI36
NG_008112.1:g.256345C>G
NG_008112.2:g.256345C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*85C>G MANE Select	ENSP00000378294.2:n.*85C>G
ENST00000265195.9:c.*85C>G	ENSP00000265195.5:n.*85C>G
ENST00000394817.6:c.*85C>G	ENSP00000378294.2:n.*85C>G
ENST00000509534.5:c.*85C>G	ENSP00000426858.1:n.*85C>G
ENST00000515008.1:n.806C>G
NM_001037633.1:c.*85C>G	NP_001032722.1:n.*85C>G
NM_022464.4:c.*85C>G	NP_071909.1:n.*85C>G
XM_011543570.1:c.*85C>G	XP_011541872.1:n.*85C>G
XM_011543570.2:c.*85C>G	XP_011541872.1:n.*85C>G
XM_024446164.1:c.*85C>G	XP_024301932.1:n.*85C>G
NM_022464.5:c.*85C>G MANE Select	NP_071909.1:n.*85C>G
NM_001037633.2:c.*85C>G	NP_001032722.1:n.*85C>G