Canonical Allele Identifier: CA446718084

Gene: SIL1

Linked Data

• gnomAD v4: 5-139050943-G-A
• MyVariant Identifiers: chr5:g.138386632G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139050943G>A , CM000667.2:g.139050943G>A	GRCh38
NC_000005.9:g.138386632G>A , CM000667.1:g.138386632G>A	GRCh37
NC_000005.8:g.138414531G>A	NCBI36
NG_008112.1:g.152434C>T
NG_008112.2:g.152434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.348C>T MANE Select	ENSP00000378294.2:p.Gly116=
ENST00000265195.9:c.348C>T	ENSP00000265195.5:p.Gly116=
ENST00000394817.6:c.348C>T	ENSP00000378294.2:p.Gly116=
ENST00000503732.1:n.175C>T
ENST00000508639.5:c.348C>T	ENSP00000427371.1:p.Gly116=
ENST00000509534.5:c.369C>T	ENSP00000426858.1:p.Gly123=
ENST00000513453.5:c.348C>T	ENSP00000424014.1:p.Gly116=
NM_001037633.1:c.348C>T	NP_001032722.1:p.Gly116=
NM_022464.4:c.348C>T	NP_071909.1:p.Gly116=
XM_011543570.1:c.378C>T	XP_011541872.1:p.Gly126=
XM_011543570.2:c.378C>T	XP_011541872.1:p.Gly126=
XM_024446164.1:c.348C>T	XP_024301932.1:p.Gly116=
NM_022464.5:c.348C>T MANE Select	NP_071909.1:p.Gly116=
NM_001037633.2:c.348C>T	NP_001032722.1:p.Gly116=