Canonical Allele Identifier: CA128236070

Gene: SIL1

Linked Data

• ClinVar Variation Id: 906656
• ClinVar RCV Id: RCV001155988
• dbSNP Id: rs927789907
• gnomAD v2: 5-138282726-C-G
• gnomAD v3: 5-138947037-C-G
• gnomAD v4: 5-138947037-C-G
• MyVariant Identifiers: chr5:g.138282726C>G (hg19) ; chr5:g.138947037C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947037C>G , CM000667.2:g.138947037C>G	GRCh38
NC_000005.9:g.138282726C>G , CM000667.1:g.138282726C>G	GRCh37
NC_000005.8:g.138310625C>G	NCBI36
NG_008112.1:g.256340G>C
NG_008112.2:g.256340G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*80G>C MANE Select	ENSP00000378294.2:n.*80G>C
ENST00000265195.9:c.*80G>C	ENSP00000265195.5:n.*80G>C
ENST00000394817.6:c.*80G>C	ENSP00000378294.2:n.*80G>C
ENST00000509534.5:c.*80G>C	ENSP00000426858.1:n.*80G>C
ENST00000515008.1:n.801G>C
NM_001037633.1:c.*80G>C	NP_001032722.1:n.*80G>C
NM_022464.4:c.*80G>C	NP_071909.1:n.*80G>C
XM_011543570.1:c.*80G>C	XP_011541872.1:n.*80G>C
XM_011543570.2:c.*80G>C	XP_011541872.1:n.*80G>C
XM_024446164.1:c.*80G>C	XP_024301932.1:n.*80G>C
NM_022464.5:c.*80G>C MANE Select	NP_071909.1:n.*80G>C
NM_001037633.2:c.*80G>C	NP_001032722.1:n.*80G>C