Canonical Allele Identifier: CA1082073104

Gene: SIL1

Linked Data

• dbSNP Id: rs1766636176
• gnomAD v3: 5-138946767-A-G
• gnomAD v4: 5-138946767-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946767A>G , CM000667.2:g.138946767A>G	GRCh38
NC_000005.9:g.138282456A>G , CM000667.1:g.138282456A>G	GRCh37
NC_000005.8:g.138310355A>G	NCBI36
NG_008112.1:g.256610T>C
NG_008112.2:g.256610T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*350T>C MANE Select	ENSP00000378294.2:n.*350T>C
ENST00000265195.9:c.*350T>C	ENSP00000265195.5:n.*350T>C
ENST00000394817.6:c.*350T>C	ENSP00000378294.2:n.*350T>C
NM_001037633.1:c.*350T>C	NP_001032722.1:n.*350T>C
NM_022464.4:c.*350T>C	NP_071909.1:n.*350T>C
XM_011543570.2:c.*350T>C	XP_011541872.1:n.*350T>C
XM_024446164.1:c.*350T>C	XP_024301932.1:n.*350T>C
NM_022464.5:c.*350T>C MANE Select	NP_071909.1:n.*350T>C
NM_001037633.2:c.*350T>C	NP_001032722.1:n.*350T>C