Canonical Allele Identifier: CA128236517

Gene: SIL1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947383A>G , CM000667.2:g.138947383A>G	GRCh38
NC_000005.9:g.138283072A>G , CM000667.1:g.138283072A>G	GRCh37
NC_000005.8:g.138310971A>G	NCBI36
NG_008112.1:g.255994T>C
NG_008112.2:g.255994T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1120T>C MANE Select	ENSP00000378294.2:p.Trp374Arg
ENST00000265195.9:c.1120T>C	ENSP00000265195.5:p.Trp374Arg
ENST00000394817.6:c.1120T>C	ENSP00000378294.2:p.Trp374Arg
ENST00000509534.5:c.1141T>C	ENSP00000426858.1:p.Trp381Arg
ENST00000515008.1:n.455T>C
NM_001037633.1:c.1120T>C	NP_001032722.1:p.Trp374Arg
NM_022464.4:c.1120T>C	NP_071909.1:p.Trp374Arg
XM_011543570.1:c.1150T>C	XP_011541872.1:p.Trp384Arg
XM_011543570.2:c.1150T>C	XP_011541872.1:p.Trp384Arg
XM_024446164.1:c.1120T>C	XP_024301932.1:p.Trp374Arg
NM_022464.5:c.1120T>C MANE Select	NP_071909.1:p.Trp374Arg
NM_001037633.2:c.1120T>C	NP_001032722.1:p.Trp374Arg