Canonical Allele Identifier: CA361476225

Gene: SIL1

Linked Data

• MyVariant Identifiers: chr5:g.138386661C>G (hg19) ; chr5:g.139050972C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139050972C>G , CM000667.2:g.139050972C>G	GRCh38
NC_000005.9:g.138386661C>G , CM000667.1:g.138386661C>G	GRCh37
NC_000005.8:g.138414560C>G	NCBI36
NG_008112.1:g.152405G>C
NG_008112.2:g.152405G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.319G>C MANE Select	ENSP00000378294.2:p.Glu107Gln
ENST00000265195.9:c.319G>C	ENSP00000265195.5:p.Glu107Gln
ENST00000394817.6:c.319G>C	ENSP00000378294.2:p.Glu107Gln
ENST00000503732.1:n.146G>C
ENST00000505830.5:c.349G>C	ENSP00000426460.1:p.Glu117Gln
ENST00000507002.5:c.349G>C	ENSP00000421890.1:p.Glu117Gln
ENST00000508639.5:c.319G>C	ENSP00000427371.1:p.Glu107Gln
ENST00000509534.5:c.340G>C	ENSP00000426858.1:p.Glu114Gln
ENST00000513453.5:c.319G>C	ENSP00000424014.1:p.Glu107Gln
NM_001037633.1:c.319G>C	NP_001032722.1:p.Glu107Gln
NM_022464.4:c.319G>C	NP_071909.1:p.Glu107Gln
XM_011543570.1:c.349G>C	XP_011541872.1:p.Glu117Gln
XM_011543570.2:c.349G>C	XP_011541872.1:p.Glu117Gln
XM_024446164.1:c.319G>C	XP_024301932.1:p.Glu107Gln
NM_022464.5:c.319G>C MANE Select	NP_071909.1:p.Glu107Gln
NM_001037633.2:c.319G>C	NP_001032722.1:p.Glu107Gln