Canonical Allele Identifier: CA1586100018
Gene: SIL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946787G= , CM000667.2:g.138946787G= GRCh38
NC_000005.9:g.138282476G= , CM000667.1:g.138282476G= GRCh37
NC_000005.8:g.138310375G= NCBI36
NG_008112.1:g.256590C=
NG_008112.2:g.256590C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*330C= MANE Select ENSP00000378294.2:n.*330C=
ENST00000265195.9:c.*330C= ENSP00000265195.5:n.*330C=
ENST00000394817.6:c.*330C= ENSP00000378294.2:n.*330C=
NM_001037633.1:c.*330C= NP_001032722.1:n.*330C=
NM_022464.4:c.*330C= NP_071909.1:n.*330C=
XM_011543570.2:c.*330C= XP_011541872.1:n.*330C=
XM_024446164.1:c.*330C= XP_024301932.1:n.*330C=
NM_022464.5:c.*330C= MANE Select NP_071909.1:n.*330C=
NM_001037633.2:c.*330C= NP_001032722.1:n.*330C=