Canonical Allele Identifier: CA3432320

Gene: SIL1

Linked Data

• ClinVar Variation Id: 2522181
• ClinVar RCV Id: RCV003241884 ; RCV003482460
• dbSNP Id: rs751454866
• ExAC: 5:138282834 A / G
• gnomAD v2: 5-138282834-A-G
• gnomAD v3: 5-138947145-A-G
• gnomAD v4: 5-138947145-A-G
• MyVariant Identifiers: chr5:g.138282834A>G (hg19) ; chr5:g.138947145A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947145A>G , CM000667.2:g.138947145A>G	GRCh38
NC_000005.9:g.138282834A>G , CM000667.1:g.138282834A>G	GRCh37
NC_000005.8:g.138310733A>G	NCBI36
NG_008112.1:g.256232T>C
NG_008112.2:g.256232T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1358T>C MANE Select	ENSP00000378294.2:p.Val453Ala
ENST00000265195.9:c.1358T>C	ENSP00000265195.5:p.Val453Ala
ENST00000394817.6:c.1358T>C	ENSP00000378294.2:p.Val453Ala
ENST00000509534.5:c.1379T>C	ENSP00000426858.1:p.Val460Ala
ENST00000515008.1:n.693T>C
NM_001037633.1:c.1358T>C	NP_001032722.1:p.Val453Ala
NM_022464.4:c.1358T>C	NP_071909.1:p.Val453Ala
XM_011543570.1:c.1388T>C	XP_011541872.1:p.Val463Ala
XM_011543570.2:c.1388T>C	XP_011541872.1:p.Val463Ala
XM_024446164.1:c.1358T>C	XP_024301932.1:p.Val453Ala
NM_022464.5:c.1358T>C MANE Select	NP_071909.1:p.Val453Ala
NM_001037633.2:c.1358T>C	NP_001032722.1:p.Val453Ala