Canonical Allele Identifier: CA3432438

Gene: SIL1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138951267C>T , CM000667.2:g.138951267C>T	GRCh38
NC_000005.9:g.138286956C>T , CM000667.1:g.138286956C>T	GRCh37
NC_000005.8:g.138314855C>T	NCBI36
NG_008112.1:g.252110G>A
NG_008112.2:g.252110G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.933G>A MANE Select	ENSP00000378294.2:p.Gly311=
ENST00000265195.9:c.933G>A	ENSP00000265195.5:p.Gly311=
ENST00000394817.6:c.933G>A	ENSP00000378294.2:p.Gly311=
ENST00000509534.5:c.954G>A	ENSP00000426858.1:p.Gly318=
ENST00000515008.1:n.268G>A
NM_001037633.1:c.933G>A	NP_001032722.1:p.Gly311=
NM_022464.4:c.933G>A	NP_071909.1:p.Gly311=
XM_011543570.1:c.963G>A	XP_011541872.1:p.Gly321=
XM_011543570.2:c.963G>A	XP_011541872.1:p.Gly321=
XM_024446164.1:c.933G>A	XP_024301932.1:p.Gly311=
NM_022464.5:c.933G>A MANE Select	NP_071909.1:p.Gly311=
NM_001037633.2:c.933G>A	NP_001032722.1:p.Gly311=