Canonical Allele Identifier: CA2768602082

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947039T>C , CM000667.2:g.138947039T>C	GRCh38
NC_000005.9:g.138282728T>C , CM000667.1:g.138282728T>C	GRCh37
NC_000005.8:g.138310627T>C	NCBI36
NG_008112.1:g.256338A>G
NG_008112.2:g.256338A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000394817.7:c.*78A>G MANE Select	ENSP00000378294.2:n.*78A>G
ENST00000265195.9:c.*78A>G	ENSP00000265195.5:n.*78A>G
ENST00000394817.6:c.*78A>G	ENSP00000378294.2:n.*78A>G
ENST00000509534.5:c.*78A>G	ENSP00000426858.1:n.*78A>G
ENST00000515008.1:n.799A>G
NM_001037633.1:c.*78A>G	NP_001032722.1:n.*78A>G
NM_022464.4:c.*78A>G	NP_071909.1:n.*78A>G
XM_011543570.1:c.*78A>G	XP_011541872.1:n.*78A>G
XM_011543570.2:c.*78A>G	XP_011541872.1:n.*78A>G
XM_024446164.1:c.*78A>G	XP_024301932.1:n.*78A>G
NM_022464.5:c.*78A>G MANE Select	NP_071909.1:n.*78A>G
NM_001037633.2:c.*78A>G	NP_001032722.1:n.*78A>G