Canonical Allele Identifier: CA361136714

Gene: SIL1

Linked Data

• ClinVar Variation Id: 426677
• ClinVar RCV Id: RCV000489081
• dbSNP Id: rs1085307740
• gnomAD v3: 5-138947314-C-T
• gnomAD v4: 5-138947314-C-T
• MyVariant Identifiers: chr5:g.138283003C>T (hg19) ; chr5:g.138947314C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947314C>T , CM000667.2:g.138947314C>T	GRCh38
NC_000005.9:g.138283003C>T , CM000667.1:g.138283003C>T	GRCh37
NC_000005.8:g.138310902C>T	NCBI36
NG_008112.1:g.256063G>A
NG_008112.2:g.256063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1189G>A MANE Select	ENSP00000378294.2:p.Val397Met
ENST00000265195.9:c.1189G>A	ENSP00000265195.5:p.Val397Met
ENST00000394817.6:c.1189G>A	ENSP00000378294.2:p.Val397Met
ENST00000509534.5:c.1210G>A	ENSP00000426858.1:p.Val404Met
ENST00000515008.1:n.524G>A
NM_001037633.1:c.1189G>A	NP_001032722.1:p.Val397Met
NM_022464.4:c.1189G>A	NP_071909.1:p.Val397Met
XM_011543570.1:c.1219G>A	XP_011541872.1:p.Val407Met
XM_011543570.2:c.1219G>A	XP_011541872.1:p.Val407Met
XM_024446164.1:c.1189G>A	XP_024301932.1:p.Val397Met
NM_022464.5:c.1189G>A MANE Select	NP_071909.1:p.Val397Met
NM_001037633.2:c.1189G>A	NP_001032722.1:p.Val397Met