Canonical Allele Identifier: CA252368

Gene: SIL1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139026799A>G , CM000667.2:g.139026799A>G	GRCh38
NC_000005.9:g.138362488A>G , CM000667.1:g.138362488A>G	GRCh37
NC_000005.8:g.138390387A>G	NCBI36
NG_008112.1:g.176578T>C
NG_008112.2:g.176578T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.645+2T>C MANE Select	ENSP00000378294.2:n.645+2T>C
ENST00000265195.9:c.645+2T>C	ENSP00000265195.5:n.645+2T>C
ENST00000394817.6:c.645+2T>C	ENSP00000378294.2:n.645+2T>C
ENST00000503732.1:n.472+2T>C
ENST00000505945.1:c.64-5507T>C	ENSP00000425136.1:n.64-5507T>C
ENST00000509534.5:c.666+2T>C	ENSP00000426858.1:n.666+2T>C
NM_001037633.1:c.645+2T>C	NP_001032722.1:n.645+2T>C
NM_022464.4:c.645+2T>C	NP_071909.1:n.645+2T>C
XM_011543570.1:c.675+2T>C	XP_011541872.1:n.675+2T>C
XM_011543570.2:c.675+2T>C	XP_011541872.1:n.675+2T>C
XM_024446164.1:c.645+2T>C	XP_024301932.1:n.645+2T>C
NM_022464.5:c.645+2T>C MANE Select	NP_071909.1:n.645+2T>C
NM_001037633.2:c.645+2T>C	NP_001032722.1:n.645+2T>C