Canonical Allele Identifier: CA3432708

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139127835G>C , CM000667.2:g.139127835G>C	GRCh38
NC_000005.9:g.138463524G>C , CM000667.1:g.138463524G>C	GRCh37
NC_000005.8:g.138491423G>C	NCBI36
NG_008112.1:g.75542C>G
NG_008112.2:g.75542C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022464.5:c.9C>G MANE Select	NP_071909.1:p.Pro3=
ENST00000394817.7:c.9C>G MANE Select	ENSP00000378294.2:p.Pro3=
NM_001037633.1:c.9C>G	NP_001032722.1:p.Pro3=
NM_001037633.2:c.9C>G	NP_001032722.1:p.Pro3=
NM_022464.4:c.9C>G	NP_071909.1:p.Pro3=
ENST00000265195.9:c.9C>G	ENSP00000265195.5:p.Pro3=
ENST00000394817.6:c.9C>G	ENSP00000378294.2:p.Pro3=
ENST00000504666.5:n.107C>G
ENST00000505353.1:c.9C>G	ENSP00000423662.1:p.Pro3=
ENST00000505830.5:c.39C>G	ENSP00000426460.1:p.Pro13=
ENST00000507002.5:c.39C>G	ENSP00000421890.1:p.Pro13=
ENST00000508639.5:c.9C>G	ENSP00000427371.1:p.Pro3=
ENST00000509400.5:n.312C>G
ENST00000509534.5:c.33C>G	ENSP00000426858.1:p.Pro11=
ENST00000513453.5:c.9C>G	ENSP00000424014.1:p.Pro3=
XM_011543570.1:c.39C>G	XP_011541872.1:p.Pro13=
XM_011543570.2:c.39C>G	XP_011541872.1:p.Pro13=
XM_024446164.1:c.9C>G	XP_024301932.1:p.Pro3=