Canonical Allele Identifier: CA1586100232
Gene: SIL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138947230G= , CM000667.2:g.138947230G= GRCh38
NC_000005.9:g.138282919G= , CM000667.1:g.138282919G= GRCh37
NC_000005.8:g.138310818G= NCBI36
NG_008112.1:g.256147C=
NG_008112.2:g.256147C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.1273C= MANE Select ENSP00000378294.2:p.Leu425=
ENST00000265195.9:c.1273C= ENSP00000265195.5:p.Leu425=
ENST00000394817.6:c.1273C= ENSP00000378294.2:p.Leu425=
ENST00000509534.5:c.1294C= ENSP00000426858.1:p.Leu432=
ENST00000515008.1:n.608C=
NM_001037633.1:c.1273C= NP_001032722.1:p.Leu425=
NM_022464.4:c.1273C= NP_071909.1:p.Leu425=
XM_011543570.1:c.1303C= XP_011541872.1:p.Leu435=
XM_011543570.2:c.1303C= XP_011541872.1:p.Leu435=
XM_024446164.1:c.1273C= XP_024301932.1:p.Leu425=
NM_022464.5:c.1273C= MANE Select NP_071909.1:p.Leu425=
NM_001037633.2:c.1273C= NP_001032722.1:p.Leu425=