Canonical Allele Identifier: CA1586100082
Gene: SIL1 HGNC NCBI

Linked Data

dbSNP Id: rs1284798168

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946917A>C , CM000667.2:g.138946917A>C GRCh38
NC_000005.9:g.138282606A>C , CM000667.1:g.138282606A>C GRCh37
NC_000005.8:g.138310505A>C NCBI36
NG_008112.1:g.256460T>G
NG_008112.2:g.256460T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*200T>G MANE Select ENSP00000378294.2:n.*200T>G
ENST00000265195.9:c.*200T>G ENSP00000265195.5:n.*200T>G
ENST00000394817.6:c.*200T>G ENSP00000378294.2:n.*200T>G
NM_001037633.1:c.*200T>G NP_001032722.1:n.*200T>G
NM_022464.4:c.*200T>G NP_071909.1:n.*200T>G
XM_011543570.2:c.*200T>G XP_011541872.1:n.*200T>G
XM_024446164.1:c.*200T>G XP_024301932.1:n.*200T>G
NM_022464.5:c.*200T>G MANE Select NP_071909.1:n.*200T>G
NM_001037633.2:c.*200T>G NP_001032722.1:n.*200T>G