Canonical Allele Identifier: CA3432347

Gene: SIL1

Linked Data

• ClinVar Variation Id: 448383
• ClinVar RCV Id: RCV000517914 ; RCV000525259 ; RCV001697011 ; RCV003935374
• dbSNP Id: rs146164392
• ExAC: 5:138282986 G / A
• gnomAD v2: 5-138282986-G-A
• gnomAD v3: 5-138947297-G-A
• gnomAD v4: 5-138947297-G-A
• MyVariant Identifiers: chr5:g.138282986G>A (hg19) ; chr5:g.138282986_138282987delinsAC (hg19) ; chr5:g.138947297G>A (hg38) ; chr5:g.138947297_138947298delinsAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947297G>A , CM000667.2:g.138947297G>A	GRCh38
NC_000005.9:g.138282986G>A , CM000667.1:g.138282986G>A	GRCh37
NC_000005.8:g.138310885G>A	NCBI36
NG_008112.1:g.256080C>T
NG_008112.2:g.256080C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1206C>T MANE Select	ENSP00000378294.2:p.Gly402=
ENST00000265195.9:c.1206C>T	ENSP00000265195.5:p.Gly402=
ENST00000394817.6:c.1206C>T	ENSP00000378294.2:p.Gly402=
ENST00000509534.5:c.1227C>T	ENSP00000426858.1:p.Gly409=
ENST00000515008.1:n.541C>T
NM_001037633.1:c.1206C>T	NP_001032722.1:p.Gly402=
NM_022464.4:c.1206C>T	NP_071909.1:p.Gly402=
XM_011543570.1:c.1236C>T	XP_011541872.1:p.Gly412=
XM_011543570.2:c.1236C>T	XP_011541872.1:p.Gly412=
XM_024446164.1:c.1206C>T	XP_024301932.1:p.Gly402=
NM_022464.5:c.1206C>T MANE Select	NP_071909.1:p.Gly402=
NM_001037633.2:c.1206C>T	NP_001032722.1:p.Gly402=