Canonical Allele Identifier: CA446723287

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139121144C>T , CM000667.2:g.139121144C>T	GRCh38
NC_000005.9:g.138456833C>T , CM000667.1:g.138456833C>T	GRCh37
NC_000005.8:g.138484732C>T	NCBI36
NG_008112.1:g.82233G>A
NG_008112.2:g.82233G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022464.5:c.135G>A MANE Select	NP_071909.1:p.Lys45=
ENST00000394817.7:c.135G>A MANE Select	ENSP00000378294.2:p.Lys45=
NM_001037633.1:c.135G>A	NP_001032722.1:p.Lys45=
NM_001037633.2:c.135G>A	NP_001032722.1:p.Lys45=
NM_022464.4:c.135G>A	NP_071909.1:p.Lys45=
ENST00000265195.9:c.135G>A	ENSP00000265195.5:p.Lys45=
ENST00000394817.6:c.135G>A	ENSP00000378294.2:p.Lys45=
ENST00000504666.5:n.233G>A
ENST00000505353.1:c.135G>A	ENSP00000423662.1:p.Lys45=
ENST00000505830.5:c.165G>A	ENSP00000426460.1:p.Lys55=
ENST00000507002.5:c.165G>A	ENSP00000421890.1:p.Lys55=
ENST00000508639.5:c.135G>A	ENSP00000427371.1:p.Lys45=
ENST00000509400.5:n.438G>A
ENST00000509534.5:c.156G>A	ENSP00000426858.1:p.Lys52=
ENST00000513453.5:c.135G>A	ENSP00000424014.1:p.Lys45=
XM_011543570.1:c.165G>A	XP_011541872.1:p.Lys55=
XM_011543570.2:c.165G>A	XP_011541872.1:p.Lys55=
XM_024446164.1:c.135G>A	XP_024301932.1:p.Lys45=