Canonical Allele Identifier: CA3432508

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139021239A>G , CM000667.2:g.139021239A>G	GRCh38
NC_000005.9:g.138356928A>G , CM000667.1:g.138356928A>G	GRCh37
NC_000005.8:g.138384827A>G	NCBI36
NG_008112.1:g.182138T>C
NG_008112.2:g.182138T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022464.5:c.699T>C MANE Select	NP_071909.1:p.Asn233=
ENST00000394817.7:c.699T>C MANE Select	ENSP00000378294.2:p.Asn233=
NM_001037633.1:c.699T>C	NP_001032722.1:p.Asn233=
NM_001037633.2:c.699T>C	NP_001032722.1:p.Asn233=
NM_022464.4:c.699T>C	NP_071909.1:p.Asn233=
ENST00000265195.9:c.699T>C	ENSP00000265195.5:p.Asn233=
ENST00000394817.6:c.699T>C	ENSP00000378294.2:p.Asn233=
ENST00000503732.1:n.526T>C
ENST00000505945.1:c.117T>C	ENSP00000425136.1:p.Asn39=
ENST00000509534.5:c.720T>C	ENSP00000426858.1:p.Asn240=
XM_011543570.1:c.729T>C	XP_011541872.1:p.Asn243=
XM_011543570.2:c.729T>C	XP_011541872.1:p.Asn243=
XM_024446164.1:c.699T>C	XP_024301932.1:p.Asn233=