Canonical Allele Identifier: CA10622936

Gene: SIL1

Linked Data

• ClinVar Variation Id: 351108
• ClinVar RCV Id: RCV000313705
• dbSNP Id: rs886059984
• gnomAD v3: 5-139198364-C-G
• gnomAD v4: 5-139198364-C-G
• MyVariant Identifiers: chr5:g.138534053C>G (hg19) ; chr5:g.139198364C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139198364C>G , CM000667.2:g.139198364C>G	GRCh38
NC_000005.9:g.138534053C>G , CM000667.1:g.138534053C>G	GRCh37
NC_000005.8:g.138561952C>G	NCBI36
NG_008112.1:g.5013G>C
NG_008112.2:g.5013G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.-106G>C MANE Select	ENSP00000378294.2:n.-106G>C
ENST00000394817.6:c.-106G>C	ENSP00000378294.2:n.-106G>C
ENST00000509400.5:n.294-70511G>C
NM_001037633.1:c.-194G>C	NP_001032722.1:n.-194G>C
NM_022464.4:c.-106G>C	NP_071909.1:n.-106G>C
NM_022464.5:c.-106G>C MANE Select	NP_071909.1:n.-106G>C
NM_001037633.2:c.-194G>C	NP_001032722.1:n.-194G>C