Canonical Allele Identifier: CA563299868

Gene: SIL1

Linked Data

• dbSNP Id: rs1369510189
• gnomAD v2: 5-138282516-A-G
• gnomAD v3: 5-138946827-A-G
• gnomAD v4: 5-138946827-A-G
• MyVariant Identifiers: chr5:g.138282516A>G (hg19) ; chr5:g.138946827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946827A>G , CM000667.2:g.138946827A>G	GRCh38
NC_000005.9:g.138282516A>G , CM000667.1:g.138282516A>G	GRCh37
NC_000005.8:g.138310415A>G	NCBI36
NG_008112.1:g.256550T>C
NG_008112.2:g.256550T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*290T>C MANE Select	ENSP00000378294.2:n.*290T>C
ENST00000265195.9:c.*290T>C	ENSP00000265195.5:n.*290T>C
ENST00000394817.6:c.*290T>C	ENSP00000378294.2:n.*290T>C
NM_001037633.1:c.*290T>C	NP_001032722.1:n.*290T>C
NM_022464.4:c.*290T>C	NP_071909.1:n.*290T>C
XM_011543570.2:c.*290T>C	XP_011541872.1:n.*290T>C
XM_024446164.1:c.*290T>C	XP_024301932.1:n.*290T>C
NM_022464.5:c.*290T>C MANE Select	NP_071909.1:n.*290T>C
NM_001037633.2:c.*290T>C	NP_001032722.1:n.*290T>C