Canonical Allele Identifier: CA446793515

Gene: SIL1

Linked Data

• ClinVar Variation Id: 2140284
• ClinVar RCV Id: RCV003073660
• dbSNP Id: rs1320201776
• gnomAD v2: 5-138282974-G-T
• gnomAD v3: 5-138947285-G-T
• gnomAD v4: 5-138947285-G-T
• MyVariant Identifiers: chr5:g.138282974G>T (hg19) ; chr5:g.138947285G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947285G>T , CM000667.2:g.138947285G>T	GRCh38
NC_000005.9:g.138282974G>T , CM000667.1:g.138282974G>T	GRCh37
NC_000005.8:g.138310873G>T	NCBI36
NG_008112.1:g.256092C>A
NG_008112.2:g.256092C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1218C>A MANE Select	ENSP00000378294.2:p.Thr406=
ENST00000265195.9:c.1218C>A	ENSP00000265195.5:p.Thr406=
ENST00000394817.6:c.1218C>A	ENSP00000378294.2:p.Thr406=
ENST00000509534.5:c.1239C>A	ENSP00000426858.1:p.Thr413=
ENST00000515008.1:n.553C>A
NM_001037633.1:c.1218C>A	NP_001032722.1:p.Thr406=
NM_022464.4:c.1218C>A	NP_071909.1:p.Thr406=
XM_011543570.1:c.1248C>A	XP_011541872.1:p.Thr416=
XM_011543570.2:c.1248C>A	XP_011541872.1:p.Thr416=
XM_024446164.1:c.1218C>A	XP_024301932.1:p.Thr406=
NM_022464.5:c.1218C>A MANE Select	NP_071909.1:p.Thr406=
NM_001037633.2:c.1218C>A	NP_001032722.1:p.Thr406=