Canonical Allele Identifier: CA446793183
Gene: SIL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.138282827G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138947138G>A , CM000667.2:g.138947138G>A GRCh38
NC_000005.9:g.138282827G>A , CM000667.1:g.138282827G>A GRCh37
NC_000005.8:g.138310726G>A NCBI36
NG_008112.1:g.256239C>T
NG_008112.2:g.256239C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.1365C>T MANE Select ENSP00000378294.2:p.Ser455=
ENST00000265195.9:c.1365C>T ENSP00000265195.5:p.Ser455=
ENST00000394817.6:c.1365C>T ENSP00000378294.2:p.Ser455=
ENST00000509534.5:c.1386C>T ENSP00000426858.1:p.Ser462=
ENST00000515008.1:n.700C>T
NM_001037633.1:c.1365C>T NP_001032722.1:p.Ser455=
NM_022464.4:c.1365C>T NP_071909.1:p.Ser455=
XM_011543570.1:c.1395C>T XP_011541872.1:p.Ser465=
XM_011543570.2:c.1395C>T XP_011541872.1:p.Ser465=
XM_024446164.1:c.1365C>T XP_024301932.1:p.Ser455=
NM_022464.5:c.1365C>T MANE Select NP_071909.1:p.Ser455=
NM_001037633.2:c.1365C>T NP_001032722.1:p.Ser455=