Canonical Allele Identifier: CA128723891

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139121147C>T , CM000667.2:g.139121147C>T	GRCh38
NC_000005.9:g.138456836C>T , CM000667.1:g.138456836C>T	GRCh37
NC_000005.8:g.138484735C>T	NCBI36
NG_008112.1:g.82230G>A
NG_008112.2:g.82230G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022464.5:c.132G>A MANE Select	NP_071909.1:p.Glu44=
ENST00000394817.7:c.132G>A MANE Select	ENSP00000378294.2:p.Glu44=
NM_001037633.1:c.132G>A	NP_001032722.1:p.Glu44=
NM_001037633.2:c.132G>A	NP_001032722.1:p.Glu44=
NM_022464.4:c.132G>A	NP_071909.1:p.Glu44=
ENST00000265195.9:c.132G>A	ENSP00000265195.5:p.Glu44=
ENST00000394817.6:c.132G>A	ENSP00000378294.2:p.Glu44=
ENST00000504666.5:n.230G>A
ENST00000505353.1:c.132G>A	ENSP00000423662.1:p.Glu44=
ENST00000505830.5:c.162G>A	ENSP00000426460.1:p.Glu54=
ENST00000507002.5:c.162G>A	ENSP00000421890.1:p.Glu54=
ENST00000508639.5:c.132G>A	ENSP00000427371.1:p.Glu44=
ENST00000509400.5:n.435G>A
ENST00000509534.5:c.153G>A	ENSP00000426858.1:p.Glu51=
ENST00000513453.5:c.132G>A	ENSP00000424014.1:p.Glu44=
XM_011543570.1:c.162G>A	XP_011541872.1:p.Glu54=
XM_011543570.2:c.162G>A	XP_011541872.1:p.Glu54=
XM_024446164.1:c.132G>A	XP_024301932.1:p.Glu44=