Canonical Allele Identifier: CA361136533

Gene: SIL1

Linked Data

• MyVariant Identifiers: chr5:g.138282909T>C (hg19) ; chr5:g.138947220T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947220T>C , CM000667.2:g.138947220T>C	GRCh38
NC_000005.9:g.138282909T>C , CM000667.1:g.138282909T>C	GRCh37
NC_000005.8:g.138310808T>C	NCBI36
NG_008112.1:g.256157A>G
NG_008112.2:g.256157A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1283A>G MANE Select	ENSP00000378294.2:p.Glu428Gly
ENST00000265195.9:c.1283A>G	ENSP00000265195.5:p.Glu428Gly
ENST00000394817.6:c.1283A>G	ENSP00000378294.2:p.Glu428Gly
ENST00000509534.5:c.1304A>G	ENSP00000426858.1:p.Glu435Gly
ENST00000515008.1:n.618A>G
NM_001037633.1:c.1283A>G	NP_001032722.1:p.Glu428Gly
NM_022464.4:c.1283A>G	NP_071909.1:p.Glu428Gly
XM_011543570.1:c.1313A>G	XP_011541872.1:p.Glu438Gly
XM_011543570.2:c.1313A>G	XP_011541872.1:p.Glu438Gly
XM_024446164.1:c.1283A>G	XP_024301932.1:p.Glu428Gly
NM_022464.5:c.1283A>G MANE Select	NP_071909.1:p.Glu428Gly
NM_001037633.2:c.1283A>G	NP_001032722.1:p.Glu428Gly