Canonical Allele Identifier: CA363849541
Gene: PI16 HGNC NCBI

Linked Data

dbSNP Id: rs1225235314
gnomAD v2: 6-36922690-T-C
gnomAD v4: 6-36954914-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36954914T>C , CM000668.2:g.36954914T>C GRCh38
NC_000006.11:g.36922690T>C , CM000668.1:g.36922690T>C GRCh37
NC_000006.10:g.37030668T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373674.4:c.154T>C MANE Select ENSP00000362778.3:p.Ser52Pro
ENST00000647861.1:c.154T>C ENSP00000497550.1:p.Ser52Pro
ENST00000373674.3:c.154T>C ENSP00000362778.3:p.Ser52Pro
ENST00000611814.4:c.154T>C ENSP00000478888.1:p.Ser52Pro
NM_001199159.1:c.154T>C NP_001186088.1:p.Ser52Pro
NM_153370.2:c.154T>C NP_699201.2:p.Ser52Pro
XM_005248917.1:c.154T>C XP_005248974.1:p.Ser52Pro
XM_011514375.1:c.154T>C XP_011512677.1:p.Ser52Pro
XM_005248917.3:c.154T>C XP_005248974.1:p.Ser52Pro
XM_011514375.3:c.154T>C XP_011512677.1:p.Ser52Pro
XM_017010430.2:c.154T>C XP_016865919.1:p.Ser52Pro
NM_153370.3:c.154T>C MANE Select NP_699201.2:p.Ser52Pro
NM_001199159.2:c.154T>C NP_001186088.1:p.Ser52Pro