Canonical Allele Identifier: CA3432502

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139021197C>T , CM000667.2:g.139021197C>T	GRCh38
NC_000005.9:g.138356886C>T , CM000667.1:g.138356886C>T	GRCh37
NC_000005.8:g.138384785C>T	NCBI36
NG_008112.1:g.182180G>A
NG_008112.2:g.182180G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022464.5:c.741G>A MANE Select	NP_071909.1:p.Ala247=
ENST00000394817.7:c.741G>A MANE Select	ENSP00000378294.2:p.Ala247=
NM_001037633.1:c.741G>A	NP_001032722.1:p.Ala247=
NM_001037633.2:c.741G>A	NP_001032722.1:p.Ala247=
NM_022464.4:c.741G>A	NP_071909.1:p.Ala247=
ENST00000265195.9:c.741G>A	ENSP00000265195.5:p.Ala247=
ENST00000394817.6:c.741G>A	ENSP00000378294.2:p.Ala247=
ENST00000503732.1:n.568G>A
ENST00000505945.1:c.159G>A	ENSP00000425136.1:p.Ala53=
ENST00000509534.5:c.762G>A	ENSP00000426858.1:p.Ala254=
XM_011543570.1:c.771G>A	XP_011541872.1:p.Ala257=
XM_011543570.2:c.771G>A	XP_011541872.1:p.Ala257=
XM_024446164.1:c.741G>A	XP_024301932.1:p.Ala247=