Canonical Allele Identifier: CA128236056

Gene: SIL1

Linked Data

• dbSNP Id: rs113433326
• MyVariant Identifiers: chr5:g.138282677A>T (hg19) ; chr5:g.138946988A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946988A>T , CM000667.2:g.138946988A>T	GRCh38
NC_000005.9:g.138282677A>T , CM000667.1:g.138282677A>T	GRCh37
NC_000005.8:g.138310576A>T	NCBI36
NG_008112.1:g.256389T>A
NG_008112.2:g.256389T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*129T>A MANE Select	ENSP00000378294.2:n.*129T>A
ENST00000265195.9:c.*129T>A	ENSP00000265195.5:n.*129T>A
ENST00000394817.6:c.*129T>A	ENSP00000378294.2:n.*129T>A
NM_001037633.1:c.*129T>A	NP_001032722.1:n.*129T>A
NM_022464.4:c.*129T>A	NP_071909.1:n.*129T>A
XM_011543570.1:c.*129T>A	XP_011541872.1:n.*129T>A
XM_011543570.2:c.*129T>A	XP_011541872.1:n.*129T>A
XM_024446164.1:c.*129T>A	XP_024301932.1:n.*129T>A
NM_022464.5:c.*129T>A MANE Select	NP_071909.1:n.*129T>A
NM_001037633.2:c.*129T>A	NP_001032722.1:n.*129T>A