Canonical Allele Identifier: CA915213100

Gene: SIL1

Linked Data

• dbSNP Id: rs1561798884
• gnomAD v2: 5-138282678-T-G
• gnomAD v3: 5-138946989-T-G
• gnomAD v4: 5-138946989-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946989T>G , CM000667.2:g.138946989T>G	GRCh38
NC_000005.9:g.138282678T>G , CM000667.1:g.138282678T>G	GRCh37
NC_000005.8:g.138310577T>G	NCBI36
NG_008112.1:g.256388A>C
NG_008112.2:g.256388A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*128A>C MANE Select	ENSP00000378294.2:n.*128A>C
ENST00000265195.9:c.*128A>C	ENSP00000265195.5:n.*128A>C
ENST00000394817.6:c.*128A>C	ENSP00000378294.2:n.*128A>C
NM_001037633.1:c.*128A>C	NP_001032722.1:n.*128A>C
NM_022464.4:c.*128A>C	NP_071909.1:n.*128A>C
XM_011543570.1:c.*128A>C	XP_011541872.1:n.*128A>C
XM_011543570.2:c.*128A>C	XP_011541872.1:n.*128A>C
XM_024446164.1:c.*128A>C	XP_024301932.1:n.*128A>C
NM_022464.5:c.*128A>C MANE Select	NP_071909.1:n.*128A>C
NM_001037633.2:c.*128A>C	NP_001032722.1:n.*128A>C