Canonical Allele Identifier: CA1586135561
Gene: SIL1 HGNC NCBI

Linked Data

dbSNP Id: rs1769269181

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139050887C>G , CM000667.2:g.139050887C>G GRCh38
NC_000005.9:g.138386576C>G , CM000667.1:g.138386576C>G GRCh37
NC_000005.8:g.138414475C>G NCBI36
NG_008112.1:g.152490G>C
NG_008112.2:g.152490G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000394817.7:c.353+51G>C MANE Select ENSP00000378294.2:n.353+51G>C
ENST00000265195.9:c.353+51G>C ENSP00000265195.5:n.353+51G>C
ENST00000394817.6:c.353+51G>C ENSP00000378294.2:n.353+51G>C
ENST00000503732.1:n.180+51G>C
ENST00000508639.5:c.353+51G>C ENSP00000427371.1:n.353+51G>C
ENST00000509534.5:c.374+51G>C ENSP00000426858.1:n.374+51G>C
ENST00000513453.5:c.353+51G>C ENSP00000424014.1:n.353+51G>C
NM_001037633.1:c.353+51G>C NP_001032722.1:n.353+51G>C
NM_022464.4:c.353+51G>C NP_071909.1:n.353+51G>C
XM_011543570.1:c.383+51G>C XP_011541872.1:n.383+51G>C
XM_011543570.2:c.383+51G>C XP_011541872.1:n.383+51G>C
XM_024446164.1:c.353+51G>C XP_024301932.1:n.353+51G>C
NM_022464.5:c.353+51G>C MANE Select NP_071909.1:n.353+51G>C
NM_001037633.2:c.353+51G>C NP_001032722.1:n.353+51G>C