Canonical Allele Identifier: CA449982067
Gene: PI16 HGNC NCBI

Linked Data

dbSNP Id: rs1763160393
gnomAD v3: 6-36954809-C-T
gnomAD v4: 6-36954809-C-T
MyVariant Identifiers: chr6:g.36922585C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36954809C>T , CM000668.2:g.36954809C>T GRCh38
NC_000006.11:g.36922585C>T , CM000668.1:g.36922585C>T GRCh37
NC_000006.10:g.37030563C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373674.4:c.49C>T MANE Select ENSP00000362778.3:p.Leu17=
ENST00000647861.1:c.49C>T ENSP00000497550.1:p.Leu17=
ENST00000373674.3:c.49C>T ENSP00000362778.3:p.Leu17=
ENST00000611814.4:c.49C>T ENSP00000478888.1:p.Leu17=
NM_001199159.1:c.49C>T NP_001186088.1:p.Leu17=
NM_153370.2:c.49C>T NP_699201.2:p.Leu17=
XM_005248917.1:c.49C>T XP_005248974.1:p.Leu17=
XM_011514375.1:c.49C>T XP_011512677.1:p.Leu17=
XM_005248917.3:c.49C>T XP_005248974.1:p.Leu17=
XM_011514375.3:c.49C>T XP_011512677.1:p.Leu17=
XM_017010430.2:c.49C>T XP_016865919.1:p.Leu17=
NM_153370.3:c.49C>T MANE Select NP_699201.2:p.Leu17=
NM_001199159.2:c.49C>T NP_001186088.1:p.Leu17=