Canonical Allele Identifier: CA3432611

Gene: SIL1

Linked Data

• dbSNP Id: rs1554129323
• ExAC: 5:138386593 C / T
• gnomAD v2: 5-138386593-C-T
• gnomAD v4: 5-139050904-C-T
• MyVariant Identifiers: chr5:g.138386593C>T (hg19) ; chr5:g.138386593_138386595delinsTTT (hg19) ; chr5:g.139050904_139050906delinsTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139050904C>T , CM000667.2:g.139050904C>T	GRCh38
NC_000005.9:g.138386593C>T , CM000667.1:g.138386593C>T	GRCh37
NC_000005.8:g.138414492C>T	NCBI36
NG_008112.1:g.152473G>A
NG_008112.2:g.152473G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000394817.7:c.353+34G>A MANE Select	ENSP00000378294.2:n.353+34G>A
ENST00000265195.9:c.353+34G>A	ENSP00000265195.5:n.353+34G>A
ENST00000394817.6:c.353+34G>A	ENSP00000378294.2:n.353+34G>A
ENST00000503732.1:n.180+34G>A
ENST00000508639.5:c.353+34G>A	ENSP00000427371.1:n.353+34G>A
ENST00000509534.5:c.374+34G>A	ENSP00000426858.1:n.374+34G>A
ENST00000513453.5:c.353+34G>A	ENSP00000424014.1:n.353+34G>A
NM_001037633.1:c.353+34G>A	NP_001032722.1:n.353+34G>A
NM_022464.4:c.353+34G>A	NP_071909.1:n.353+34G>A
XM_011543570.1:c.383+34G>A	XP_011541872.1:n.383+34G>A
XM_011543570.2:c.383+34G>A	XP_011541872.1:n.383+34G>A
XM_024446164.1:c.353+34G>A	XP_024301932.1:n.353+34G>A
NM_022464.5:c.353+34G>A MANE Select	NP_071909.1:n.353+34G>A
NM_001037633.2:c.353+34G>A	NP_001032722.1:n.353+34G>A