Canonical Allele Identifier: CA3432342

Gene: SIL1

Linked Data

• ClinVar Variation Id: 1010979
• ClinVar RCV Id: RCV001308710
• dbSNP Id: rs142943842
• ExAC: 5:138282961 G / A
• gnomAD v2: 5-138282961-G-A
• gnomAD v3: 5-138947272-G-A
• gnomAD v4: 5-138947272-G-A
• MyVariant Identifiers: chr5:g.138282961G>A (hg19) ; chr5:g.138947272G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947272G>A , CM000667.2:g.138947272G>A	GRCh38
NC_000005.9:g.138282961G>A , CM000667.1:g.138282961G>A	GRCh37
NC_000005.8:g.138310860G>A	NCBI36
NG_008112.1:g.256105C>T
NG_008112.2:g.256105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1231C>T MANE Select	ENSP00000378294.2:p.Arg411Cys
ENST00000265195.9:c.1231C>T	ENSP00000265195.5:p.Arg411Cys
ENST00000394817.6:c.1231C>T	ENSP00000378294.2:p.Arg411Cys
ENST00000509534.5:c.1252C>T	ENSP00000426858.1:p.Arg418Cys
ENST00000515008.1:n.566C>T
NM_001037633.1:c.1231C>T	NP_001032722.1:p.Arg411Cys
NM_022464.4:c.1231C>T	NP_071909.1:p.Arg411Cys
XM_011543570.1:c.1261C>T	XP_011541872.1:p.Arg421Cys
XM_011543570.2:c.1261C>T	XP_011541872.1:p.Arg421Cys
XM_024446164.1:c.1231C>T	XP_024301932.1:p.Arg411Cys
NM_022464.5:c.1231C>T MANE Select	NP_071909.1:p.Arg411Cys
NM_001037633.2:c.1231C>T	NP_001032722.1:p.Arg411Cys