Canonical Allele Identifier: CA3432382
Gene: SIL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280106
dbSNP Id: rs370290043

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