Canonical Allele Identifier: CA275358

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139026986G>A , CM000667.2:g.139026986G>A	GRCh38
NC_000005.9:g.138362675G>A , CM000667.1:g.138362675G>A	GRCh37
NC_000005.8:g.138390574G>A	NCBI36
NG_008112.1:g.176391C>T
NG_008112.2:g.176391C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022464.5:c.460C>T MANE Select	NP_071909.1:p.Gln154Ter
ENST00000394817.7:c.460C>T MANE Select	ENSP00000378294.2:p.Gln154Ter
NM_001037633.1:c.460C>T	NP_001032722.1:p.Gln154Ter
NM_001037633.2:c.460C>T	NP_001032722.1:p.Gln154Ter
NM_022464.4:c.460C>T	NP_071909.1:p.Gln154Ter
ENST00000265195.9:c.460C>T	ENSP00000265195.5:p.Gln154Ter
ENST00000394817.6:c.460C>T	ENSP00000378294.2:p.Gln154Ter
ENST00000503732.1:n.287C>T
ENST00000505945.1:c.64-5694C>T	ENSP00000425136.1:n.64-5694C>T
ENST00000508639.5:c.460C>T	ENSP00000427371.1:p.Gln154Ter
ENST00000509534.5:c.481C>T	ENSP00000426858.1:p.Gln161Ter
XM_011543570.1:c.490C>T	XP_011541872.1:p.Gln164Ter
XM_011543570.2:c.490C>T	XP_011541872.1:p.Gln164Ter
XM_024446164.1:c.460C>T	XP_024301932.1:p.Gln154Ter