Canonical Allele Identifier: CA446793501
Gene: SIL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.138282965C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138947276C>T , CM000667.2:g.138947276C>T GRCh38
NC_000005.9:g.138282965C>T , CM000667.1:g.138282965C>T GRCh37
NC_000005.8:g.138310864C>T NCBI36
NG_008112.1:g.256101G>A
NG_008112.2:g.256101G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.1227G>A MANE Select ENSP00000378294.2:p.Arg409=
ENST00000265195.9:c.1227G>A ENSP00000265195.5:p.Arg409=
ENST00000394817.6:c.1227G>A ENSP00000378294.2:p.Arg409=
ENST00000509534.5:c.1248G>A ENSP00000426858.1:p.Arg416=
ENST00000515008.1:n.562G>A
NM_001037633.1:c.1227G>A NP_001032722.1:p.Arg409=
NM_022464.4:c.1227G>A NP_071909.1:p.Arg409=
XM_011543570.1:c.1257G>A XP_011541872.1:p.Arg419=
XM_011543570.2:c.1257G>A XP_011541872.1:p.Arg419=
XM_024446164.1:c.1227G>A XP_024301932.1:p.Arg409=
NM_022464.5:c.1227G>A MANE Select NP_071909.1:p.Arg409=
NM_001037633.2:c.1227G>A NP_001032722.1:p.Arg409=