Canonical Allele Identifier: CA247800

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138951803G>A , CM000667.2:g.138951803G>A	GRCh38
NC_000005.9:g.138287492G>A , CM000667.1:g.138287492G>A	GRCh37
NC_000005.8:g.138315391G>A	NCBI36
NG_008112.1:g.251574C>T
NG_008112.2:g.251574C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022464.5:c.849C>T MANE Select	NP_071909.1:p.Leu283=
ENST00000394817.7:c.849C>T MANE Select	ENSP00000378294.2:p.Leu283=
NM_001037633.1:c.849C>T	NP_001032722.1:p.Leu283=
NM_001037633.2:c.849C>T	NP_001032722.1:p.Leu283=
NM_022464.4:c.849C>T	NP_071909.1:p.Leu283=
ENST00000265195.9:c.849C>T	ENSP00000265195.5:p.Leu283=
ENST00000394817.6:c.849C>T	ENSP00000378294.2:p.Leu283=
ENST00000503732.1:n.676C>T
ENST00000509534.5:c.870C>T	ENSP00000426858.1:p.Leu290=
ENST00000515008.1:n.184C>T
XM_011543570.1:c.879C>T	XP_011541872.1:p.Leu293=
XM_011543570.2:c.879C>T	XP_011541872.1:p.Leu293=
XM_024446164.1:c.849C>T	XP_024301932.1:p.Leu283=