Canonical Allele Identifier: CA1586100075
Gene: SIL1 HGNC NCBI

Linked Data

dbSNP Id: rs1766640731

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946896T>A , CM000667.2:g.138946896T>A GRCh38
NC_000005.9:g.138282585T>A , CM000667.1:g.138282585T>A GRCh37
NC_000005.8:g.138310484T>A NCBI36
NG_008112.1:g.256481A>T
NG_008112.2:g.256481A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*221A>T MANE Select ENSP00000378294.2:n.*221A>T
ENST00000265195.9:c.*221A>T ENSP00000265195.5:n.*221A>T
ENST00000394817.6:c.*221A>T ENSP00000378294.2:n.*221A>T
NM_001037633.1:c.*221A>T NP_001032722.1:n.*221A>T
NM_022464.4:c.*221A>T NP_071909.1:n.*221A>T
XM_011543570.2:c.*221A>T XP_011541872.1:n.*221A>T
XM_024446164.1:c.*221A>T XP_024301932.1:n.*221A>T
NM_022464.5:c.*221A>T MANE Select NP_071909.1:n.*221A>T
NM_001037633.2:c.*221A>T NP_001032722.1:n.*221A>T