Canonical Allele Identifier: CA804574881

Gene: SIL1

Linked Data

• dbSNP Id: rs1337572310
• gnomAD v3: 5-138947045-C-G
• gnomAD v4: 5-138947045-C-G
• MyVariant Identifiers: chr5:g.138282734C>G (hg19) ; chr5:g.138947045C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947045C>G , CM000667.2:g.138947045C>G	GRCh38
NC_000005.9:g.138282734C>G , CM000667.1:g.138282734C>G	GRCh37
NC_000005.8:g.138310633C>G	NCBI36
NG_008112.1:g.256332G>C
NG_008112.2:g.256332G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394817.7:c.*72G>C MANE Select	ENSP00000378294.2:n.*72G>C
ENST00000265195.9:c.*72G>C	ENSP00000265195.5:n.*72G>C
ENST00000394817.6:c.*72G>C	ENSP00000378294.2:n.*72G>C
ENST00000509534.5:c.*72G>C	ENSP00000426858.1:n.*72G>C
ENST00000515008.1:n.793G>C
NM_001037633.1:c.*72G>C	NP_001032722.1:n.*72G>C
NM_022464.4:c.*72G>C	NP_071909.1:n.*72G>C
XM_011543570.1:c.*72G>C	XP_011541872.1:n.*72G>C
XM_011543570.2:c.*72G>C	XP_011541872.1:n.*72G>C
XM_024446164.1:c.*72G>C	XP_024301932.1:n.*72G>C
NM_022464.5:c.*72G>C MANE Select	NP_071909.1:n.*72G>C
NM_001037633.2:c.*72G>C	NP_001032722.1:n.*72G>C