Canonical Allele Identifier: CA3432330

Gene: SIL1

Linked Data

• ClinVar Variation Id: 593134
• ClinVar RCV Id: RCV000728090 ; RCV001155989
• dbSNP Id: rs761095369
• ExAC: 5:138282910 C / G
• gnomAD v2: 5-138282910-C-G
• gnomAD v3: 5-138947221-C-G
• gnomAD v4: 5-138947221-C-G
• MyVariant Identifiers: chr5:g.138282910C>G (hg19) ; chr5:g.138947221C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947221C>G , CM000667.2:g.138947221C>G	GRCh38
NC_000005.9:g.138282910C>G , CM000667.1:g.138282910C>G	GRCh37
NC_000005.8:g.138310809C>G	NCBI36
NG_008112.1:g.256156G>C
NG_008112.2:g.256156G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1282G>C MANE Select	ENSP00000378294.2:p.Glu428Gln
ENST00000265195.9:c.1282G>C	ENSP00000265195.5:p.Glu428Gln
ENST00000394817.6:c.1282G>C	ENSP00000378294.2:p.Glu428Gln
ENST00000509534.5:c.1303G>C	ENSP00000426858.1:p.Glu435Gln
ENST00000515008.1:n.617G>C
NM_001037633.1:c.1282G>C	NP_001032722.1:p.Glu428Gln
NM_022464.4:c.1282G>C	NP_071909.1:p.Glu428Gln
XM_011543570.1:c.1312G>C	XP_011541872.1:p.Glu438Gln
XM_011543570.2:c.1312G>C	XP_011541872.1:p.Glu438Gln
XM_024446164.1:c.1282G>C	XP_024301932.1:p.Glu428Gln
NM_022464.5:c.1282G>C MANE Select	NP_071909.1:p.Glu428Gln
NM_001037633.2:c.1282G>C	NP_001032722.1:p.Glu428Gln