Canonical Allele Identifier: CA3432337

Gene: SIL1

Linked Data

• ClinVar Variation Id: 2433358
• ClinVar RCV Id: RCV003134012
• dbSNP Id: rs368867955
• ExAC: 5:138282943 G / A
• gnomAD v2: 5-138282943-G-A
• gnomAD v3: 5-138947254-G-A
• gnomAD v4: 5-138947254-G-A
• MyVariant Identifiers: chr5:g.138282943G>A (hg19) ; chr5:g.138947254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947254G>A , CM000667.2:g.138947254G>A	GRCh38
NC_000005.9:g.138282943G>A , CM000667.1:g.138282943G>A	GRCh37
NC_000005.8:g.138310842G>A	NCBI36
NG_008112.1:g.256123C>T
NG_008112.2:g.256123C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1249C>T MANE Select	ENSP00000378294.2:p.Gln417Ter
ENST00000265195.9:c.1249C>T	ENSP00000265195.5:p.Gln417Ter
ENST00000394817.6:c.1249C>T	ENSP00000378294.2:p.Gln417Ter
ENST00000509534.5:c.1270C>T	ENSP00000426858.1:p.Gln424Ter
ENST00000515008.1:n.584C>T
NM_001037633.1:c.1249C>T	NP_001032722.1:p.Gln417Ter
NM_022464.4:c.1249C>T	NP_071909.1:p.Gln417Ter
XM_011543570.1:c.1279C>T	XP_011541872.1:p.Gln427Ter
XM_011543570.2:c.1279C>T	XP_011541872.1:p.Gln427Ter
XM_024446164.1:c.1249C>T	XP_024301932.1:p.Gln417Ter
NM_022464.5:c.1249C>T MANE Select	NP_071909.1:p.Gln417Ter
NM_001037633.2:c.1249C>T	NP_001032722.1:p.Gln417Ter