Canonical Allele Identifier: CA449982065
Gene: PI16 HGNC NCBI

Linked Data

dbSNP Id: rs1179873856
gnomAD v2: 6-36922584-A-G
gnomAD v3: 6-36954808-A-G
gnomAD v4: 6-36954808-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36954808A>G , CM000668.2:g.36954808A>G GRCh38
NC_000006.11:g.36922584A>G , CM000668.1:g.36922584A>G GRCh37
NC_000006.10:g.37030562A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373674.4:c.48A>G MANE Select ENSP00000362778.3:p.Leu16=
ENST00000647861.1:c.48A>G ENSP00000497550.1:p.Leu16=
ENST00000373674.3:c.48A>G ENSP00000362778.3:p.Leu16=
ENST00000611814.4:c.48A>G ENSP00000478888.1:p.Leu16=
NM_001199159.1:c.48A>G NP_001186088.1:p.Leu16=
NM_153370.2:c.48A>G NP_699201.2:p.Leu16=
XM_005248917.1:c.48A>G XP_005248974.1:p.Leu16=
XM_011514375.1:c.48A>G XP_011512677.1:p.Leu16=
XM_005248917.3:c.48A>G XP_005248974.1:p.Leu16=
XM_011514375.3:c.48A>G XP_011512677.1:p.Leu16=
XM_017010430.2:c.48A>G XP_016865919.1:p.Leu16=
NM_153370.3:c.48A>G MANE Select NP_699201.2:p.Leu16=
NM_001199159.2:c.48A>G NP_001186088.1:p.Leu16=