Canonical Allele Identifier: CA361476226

Gene: SIL1

Linked Data

• MyVariant Identifiers: chr5:g.138386662A>T (hg19) ; chr5:g.139050973A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139050973A>T , CM000667.2:g.139050973A>T	GRCh38
NC_000005.9:g.138386662A>T , CM000667.1:g.138386662A>T	GRCh37
NC_000005.8:g.138414561A>T	NCBI36
NG_008112.1:g.152404T>A
NG_008112.2:g.152404T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.318T>A MANE Select	ENSP00000378294.2:p.Tyr106Ter
ENST00000265195.9:c.318T>A	ENSP00000265195.5:p.Tyr106Ter
ENST00000394817.6:c.318T>A	ENSP00000378294.2:p.Tyr106Ter
ENST00000503732.1:n.145T>A
ENST00000505830.5:c.348T>A	ENSP00000426460.1:p.Tyr116Ter
ENST00000507002.5:c.348T>A	ENSP00000421890.1:p.Tyr116Ter
ENST00000508639.5:c.318T>A	ENSP00000427371.1:p.Tyr106Ter
ENST00000509534.5:c.339T>A	ENSP00000426858.1:p.Tyr113Ter
ENST00000513453.5:c.318T>A	ENSP00000424014.1:p.Tyr106Ter
NM_001037633.1:c.318T>A	NP_001032722.1:p.Tyr106Ter
NM_022464.4:c.318T>A	NP_071909.1:p.Tyr106Ter
XM_011543570.1:c.348T>A	XP_011541872.1:p.Tyr116Ter
XM_011543570.2:c.348T>A	XP_011541872.1:p.Tyr116Ter
XM_024446164.1:c.318T>A	XP_024301932.1:p.Tyr106Ter
NM_022464.5:c.318T>A MANE Select	NP_071909.1:p.Tyr106Ter
NM_001037633.2:c.318T>A	NP_001032722.1:p.Tyr106Ter