Canonical Allele Identifier: CA3432338

Gene: SIL1

Linked Data

• ClinVar Variation Id: 1925918
• ClinVar RCV Id: RCV002604949
• dbSNP Id: rs138448654
• ExAC: 5:138282954 C / A
• gnomAD v2: 5-138282954-C-A
• gnomAD v3: 5-138947265-C-A
• gnomAD v4: 5-138947265-C-A
• MyVariant Identifiers: chr5:g.138282954C>A (hg19) ; chr5:g.138947265C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947265C>A , CM000667.2:g.138947265C>A	GRCh38
NC_000005.9:g.138282954C>A , CM000667.1:g.138282954C>A	GRCh37
NC_000005.8:g.138310853C>A	NCBI36
NG_008112.1:g.256112G>T
NG_008112.2:g.256112G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1238G>T MANE Select	ENSP00000378294.2:p.Arg413Leu
ENST00000265195.9:c.1238G>T	ENSP00000265195.5:p.Arg413Leu
ENST00000394817.6:c.1238G>T	ENSP00000378294.2:p.Arg413Leu
ENST00000509534.5:c.1259G>T	ENSP00000426858.1:p.Arg420Leu
ENST00000515008.1:n.573G>T
NM_001037633.1:c.1238G>T	NP_001032722.1:p.Arg413Leu
NM_022464.4:c.1238G>T	NP_071909.1:p.Arg413Leu
XM_011543570.1:c.1268G>T	XP_011541872.1:p.Arg423Leu
XM_011543570.2:c.1268G>T	XP_011541872.1:p.Arg423Leu
XM_024446164.1:c.1238G>T	XP_024301932.1:p.Arg413Leu
NM_022464.5:c.1238G>T MANE Select	NP_071909.1:p.Arg413Leu
NM_001037633.2:c.1238G>T	NP_001032722.1:p.Arg413Leu