Canonical Allele Identifier: CA3432547

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139026873C>T , CM000667.2:g.139026873C>T	GRCh38
NC_000005.9:g.138362562C>T , CM000667.1:g.138362562C>T	GRCh37
NC_000005.8:g.138390461C>T	NCBI36
NG_008112.1:g.176504G>A
NG_008112.2:g.176504G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022464.5:c.573G>A MANE Select	NP_071909.1:p.Lys191=
ENST00000394817.7:c.573G>A MANE Select	ENSP00000378294.2:p.Lys191=
NM_001037633.1:c.573G>A	NP_001032722.1:p.Lys191=
NM_001037633.2:c.573G>A	NP_001032722.1:p.Lys191=
NM_022464.4:c.573G>A	NP_071909.1:p.Lys191=
ENST00000265195.9:c.573G>A	ENSP00000265195.5:p.Lys191=
ENST00000394817.6:c.573G>A	ENSP00000378294.2:p.Lys191=
ENST00000503732.1:n.400G>A
ENST00000505945.1:c.64-5581G>A	ENSP00000425136.1:n.64-5581G>A
ENST00000509534.5:c.594G>A	ENSP00000426858.1:p.Lys198=
XM_011543570.1:c.603G>A	XP_011541872.1:p.Lys201=
XM_011543570.2:c.603G>A	XP_011541872.1:p.Lys201=
XM_024446164.1:c.573G>A	XP_024301932.1:p.Lys191=