Canonical Allele Identifier: CA3432382

Gene: SIL1

Linked Data

• ClinVar Variation Id: 280106
• ClinVar RCV Id: RCV000277678 ; RCV001782768 ; RCV002252076
• dbSNP Id: rs370290043
• ExAC: 5:138283171 C / T
• gnomAD v2: 5-138283171-C-T
• gnomAD v3: 5-138947482-C-T
• gnomAD v4: 5-138947482-C-T
• MyVariant Identifiers: chr5:g.138283171C>T (hg19) ; chr5:g.138947482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947482C>T , CM000667.2:g.138947482C>T	GRCh38
NC_000005.9:g.138283171C>T , CM000667.1:g.138283171C>T	GRCh37
NC_000005.8:g.138311070C>T	NCBI36
NG_008112.1:g.255895G>A
NG_008112.2:g.255895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1030-9G>A MANE Select	ENSP00000378294.2:n.1030-9G>A
ENST00000265195.9:c.1030-9G>A	ENSP00000265195.5:n.1030-9G>A
ENST00000394817.6:c.1030-9G>A	ENSP00000378294.2:n.1030-9G>A
ENST00000509534.5:c.1051-9G>A	ENSP00000426858.1:n.1051-9G>A
ENST00000515008.1:n.365-9G>A
NM_001037633.1:c.1030-9G>A	NP_001032722.1:n.1030-9G>A
NM_022464.4:c.1030-9G>A	NP_071909.1:n.1030-9G>A
XM_011543570.1:c.1060-9G>A	XP_011541872.1:n.1060-9G>A
XM_011543570.2:c.1060-9G>A	XP_011541872.1:n.1060-9G>A
XM_024446164.1:c.1030-9G>A	XP_024301932.1:n.1030-9G>A
NM_022464.5:c.1030-9G>A MANE Select	NP_071909.1:n.1030-9G>A
NM_001037633.2:c.1030-9G>A	NP_001032722.1:n.1030-9G>A