Canonical Allele Identifier: CA446718316

Gene: SIL1

Linked Data

• dbSNP Id: rs1451332788
• gnomAD v2: 5-138386656-G-A
• gnomAD v3: 5-139050967-G-A
• gnomAD v4: 5-139050967-G-A
• MyVariant Identifiers: chr5:g.138386656G>A (hg19) ; chr5:g.139050967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139050967G>A , CM000667.2:g.139050967G>A	GRCh38
NC_000005.9:g.138386656G>A , CM000667.1:g.138386656G>A	GRCh37
NC_000005.8:g.138414555G>A	NCBI36
NG_008112.1:g.152410C>T
NG_008112.2:g.152410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.324C>T MANE Select	ENSP00000378294.2:p.Asp108=
ENST00000265195.9:c.324C>T	ENSP00000265195.5:p.Asp108=
ENST00000394817.6:c.324C>T	ENSP00000378294.2:p.Asp108=
ENST00000503732.1:n.151C>T
ENST00000505830.5:c.354C>T	ENSP00000426460.1:p.Asp118=
ENST00000507002.5:c.354C>T	ENSP00000421890.1:p.Asp118=
ENST00000508639.5:c.324C>T	ENSP00000427371.1:p.Asp108=
ENST00000509534.5:c.345C>T	ENSP00000426858.1:p.Asp115=
ENST00000513453.5:c.324C>T	ENSP00000424014.1:p.Asp108=
NM_001037633.1:c.324C>T	NP_001032722.1:p.Asp108=
NM_022464.4:c.324C>T	NP_071909.1:p.Asp108=
XM_011543570.1:c.354C>T	XP_011541872.1:p.Asp118=
XM_011543570.2:c.354C>T	XP_011541872.1:p.Asp118=
XM_024446164.1:c.324C>T	XP_024301932.1:p.Asp108=
NM_022464.5:c.324C>T MANE Select	NP_071909.1:p.Asp108=
NM_001037633.2:c.324C>T	NP_001032722.1:p.Asp108=