Canonical Allele Identifier: CA363849532
Gene: PI16 HGNC NCBI

Linked Data

dbSNP Id: rs751280961
gnomAD v2: 6-36922685-C-G
gnomAD v4: 6-36954909-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36954909C>G , CM000668.2:g.36954909C>G GRCh38
NC_000006.11:g.36922685C>G , CM000668.1:g.36922685C>G GRCh37
NC_000006.10:g.37030663C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373674.4:c.149C>G MANE Select ENSP00000362778.3:p.Thr50Arg
ENST00000647861.1:c.149C>G ENSP00000497550.1:p.Thr50Arg
ENST00000373674.3:c.149C>G ENSP00000362778.3:p.Thr50Arg
ENST00000611814.4:c.149C>G ENSP00000478888.1:p.Thr50Arg
NM_001199159.1:c.149C>G NP_001186088.1:p.Thr50Arg
NM_153370.2:c.149C>G NP_699201.2:p.Thr50Arg
XM_005248917.1:c.149C>G XP_005248974.1:p.Thr50Arg
XM_011514375.1:c.149C>G XP_011512677.1:p.Thr50Arg
XM_005248917.3:c.149C>G XP_005248974.1:p.Thr50Arg
XM_011514375.3:c.149C>G XP_011512677.1:p.Thr50Arg
XM_017010430.2:c.149C>G XP_016865919.1:p.Thr50Arg
NM_153370.3:c.149C>G MANE Select NP_699201.2:p.Thr50Arg
NM_001199159.2:c.149C>G NP_001186088.1:p.Thr50Arg