Canonical Allele Identifier: CA3432534

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139026786G>A , CM000667.2:g.139026786G>A	GRCh38
NC_000005.9:g.138362475G>A , CM000667.1:g.138362475G>A	GRCh37
NC_000005.8:g.138390374G>A	NCBI36
NG_008112.1:g.176591C>T
NG_008112.2:g.176591C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022464.5:c.645+15C>T MANE Select	NP_071909.1:n.645+15C>T
ENST00000394817.7:c.645+15C>T MANE Select	ENSP00000378294.2:n.645+15C>T
NM_001037633.1:c.645+15C>T	NP_001032722.1:n.645+15C>T
NM_001037633.2:c.645+15C>T	NP_001032722.1:n.645+15C>T
NM_022464.4:c.645+15C>T	NP_071909.1:n.645+15C>T
ENST00000265195.9:c.645+15C>T	ENSP00000265195.5:n.645+15C>T
ENST00000394817.6:c.645+15C>T	ENSP00000378294.2:n.645+15C>T
ENST00000503732.1:n.472+15C>T
ENST00000505945.1:c.64-5494C>T	ENSP00000425136.1:n.64-5494C>T
ENST00000509534.5:c.666+15C>T	ENSP00000426858.1:n.666+15C>T
XM_011543570.1:c.675+15C>T	XP_011541872.1:n.675+15C>T
XM_011543570.2:c.675+15C>T	XP_011541872.1:n.675+15C>T
XM_024446164.1:c.645+15C>T	XP_024301932.1:n.645+15C>T