Canonical Allele Identifier: CA361476278

Gene: SIL1

Linked Data

• MyVariant Identifiers: chr5:g.138386684T>G (hg19) ; chr5:g.139050995T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139050995T>G , CM000667.2:g.139050995T>G	GRCh38
NC_000005.9:g.138386684T>G , CM000667.1:g.138386684T>G	GRCh37
NC_000005.8:g.138414583T>G	NCBI36
NG_008112.1:g.152382A>C
NG_008112.2:g.152382A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.296A>C MANE Select	ENSP00000378294.2:p.Glu99Ala
ENST00000265195.9:c.296A>C	ENSP00000265195.5:p.Glu99Ala
ENST00000394817.6:c.296A>C	ENSP00000378294.2:p.Glu99Ala
ENST00000503732.1:n.123A>C
ENST00000505830.5:c.326A>C	ENSP00000426460.1:p.Glu109Ala
ENST00000507002.5:c.326A>C	ENSP00000421890.1:p.Glu109Ala
ENST00000508639.5:c.296A>C	ENSP00000427371.1:p.Glu99Ala
ENST00000509534.5:c.317A>C	ENSP00000426858.1:p.Glu106Ala
ENST00000513453.5:c.296A>C	ENSP00000424014.1:p.Glu99Ala
NM_001037633.1:c.296A>C	NP_001032722.1:p.Glu99Ala
NM_022464.4:c.296A>C	NP_071909.1:p.Glu99Ala
XM_011543570.1:c.326A>C	XP_011541872.1:p.Glu109Ala
XM_011543570.2:c.326A>C	XP_011541872.1:p.Glu109Ala
XM_024446164.1:c.296A>C	XP_024301932.1:p.Glu99Ala
NM_022464.5:c.296A>C MANE Select	NP_071909.1:p.Glu99Ala
NM_001037633.2:c.296A>C	NP_001032722.1:p.Glu99Ala