Canonical Allele Identifier: CA1586135558

Gene: SIL1

Linked Data

• dbSNP Id: rs1769269078
• gnomAD v4: 5-139050872-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139050872T>A , CM000667.2:g.139050872T>A	GRCh38
NC_000005.9:g.138386561T>A , CM000667.1:g.138386561T>A	GRCh37
NC_000005.8:g.138414460T>A	NCBI36
NG_008112.1:g.152505A>T
NG_008112.2:g.152505A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.353+66A>T MANE Select	ENSP00000378294.2:n.353+66A>T
ENST00000265195.9:c.353+66A>T	ENSP00000265195.5:n.353+66A>T
ENST00000394817.6:c.353+66A>T	ENSP00000378294.2:n.353+66A>T
ENST00000503732.1:n.180+66A>T
ENST00000508639.5:c.353+66A>T	ENSP00000427371.1:n.353+66A>T
ENST00000509534.5:c.374+66A>T	ENSP00000426858.1:n.374+66A>T
ENST00000513453.5:c.353+66A>T	ENSP00000424014.1:n.353+66A>T
NM_001037633.1:c.353+66A>T	NP_001032722.1:n.353+66A>T
NM_022464.4:c.353+66A>T	NP_071909.1:n.353+66A>T
XM_011543570.1:c.383+66A>T	XP_011541872.1:n.383+66A>T
XM_011543570.2:c.383+66A>T	XP_011541872.1:n.383+66A>T
XM_024446164.1:c.353+66A>T	XP_024301932.1:n.353+66A>T
NM_022464.5:c.353+66A>T MANE Select	NP_071909.1:n.353+66A>T
NM_001037633.2:c.353+66A>T	NP_001032722.1:n.353+66A>T