Canonical Allele Identifier: CA3432350

Gene: SIL1

Linked Data

• dbSNP Id: rs770107422
• ExAC: 5:138282998 C / T
• gnomAD v2: 5-138282998-C-T
• gnomAD v4: 5-138947309-C-T
• MyVariant Identifiers: chr5:g.138282998C>T (hg19) ; chr5:g.138947309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947309C>T , CM000667.2:g.138947309C>T	GRCh38
NC_000005.9:g.138282998C>T , CM000667.1:g.138282998C>T	GRCh37
NC_000005.8:g.138310897C>T	NCBI36
NG_008112.1:g.256068G>A
NG_008112.2:g.256068G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1194G>A MANE Select	ENSP00000378294.2:p.Leu398=
ENST00000265195.9:c.1194G>A	ENSP00000265195.5:p.Leu398=
ENST00000394817.6:c.1194G>A	ENSP00000378294.2:p.Leu398=
ENST00000509534.5:c.1215G>A	ENSP00000426858.1:p.Leu405=
ENST00000515008.1:n.529G>A
NM_001037633.1:c.1194G>A	NP_001032722.1:p.Leu398=
NM_022464.4:c.1194G>A	NP_071909.1:p.Leu398=
XM_011543570.1:c.1224G>A	XP_011541872.1:p.Leu408=
XM_011543570.2:c.1224G>A	XP_011541872.1:p.Leu408=
XM_024446164.1:c.1194G>A	XP_024301932.1:p.Leu398=
NM_022464.5:c.1194G>A MANE Select	NP_071909.1:p.Leu398=
NM_001037633.2:c.1194G>A	NP_001032722.1:p.Leu398=