Canonical Allele Identifier: CA128236276

Gene: SIL1

Linked Data

• ClinVar Variation Id: 973340
• ClinVar RCV Id: RCV001249840 ; RCV002570406
• dbSNP Id: rs994932069
• gnomAD v2: 5-138282906-T-A
• gnomAD v3: 5-138947217-T-A
• gnomAD v4: 5-138947217-T-A
• MyVariant Identifiers: chr5:g.138282906T>A (hg19) ; chr5:g.138947217T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947217T>A , CM000667.2:g.138947217T>A	GRCh38
NC_000005.9:g.138282906T>A , CM000667.1:g.138282906T>A	GRCh37
NC_000005.8:g.138310805T>A	NCBI36
NG_008112.1:g.256160A>T
NG_008112.2:g.256160A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1286A>T MANE Select	ENSP00000378294.2:p.Tyr429Phe
ENST00000265195.9:c.1286A>T	ENSP00000265195.5:p.Tyr429Phe
ENST00000394817.6:c.1286A>T	ENSP00000378294.2:p.Tyr429Phe
ENST00000509534.5:c.1307A>T	ENSP00000426858.1:p.Tyr436Phe
ENST00000515008.1:n.621A>T
NM_001037633.1:c.1286A>T	NP_001032722.1:p.Tyr429Phe
NM_022464.4:c.1286A>T	NP_071909.1:p.Tyr429Phe
XM_011543570.1:c.1316A>T	XP_011541872.1:p.Tyr439Phe
XM_011543570.2:c.1316A>T	XP_011541872.1:p.Tyr439Phe
XM_024446164.1:c.1286A>T	XP_024301932.1:p.Tyr429Phe
NM_022464.5:c.1286A>T MANE Select	NP_071909.1:p.Tyr429Phe
NM_001037633.2:c.1286A>T	NP_001032722.1:p.Tyr429Phe