Canonical Allele Identifier: CA363849342
Gene: PI16 HGNC NCBI

Linked Data

dbSNP Id: rs1179084432
gnomAD v2: 6-36922591-G-A
gnomAD v4: 6-36954815-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36954815G>A , CM000668.2:g.36954815G>A GRCh38
NC_000006.11:g.36922591G>A , CM000668.1:g.36922591G>A GRCh37
NC_000006.10:g.37030569G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373674.4:c.55G>A MANE Select ENSP00000362778.3:p.Val19Met
ENST00000647861.1:c.55G>A ENSP00000497550.1:p.Val19Met
ENST00000373674.3:c.55G>A ENSP00000362778.3:p.Val19Met
ENST00000611814.4:c.55G>A ENSP00000478888.1:p.Val19Met
NM_001199159.1:c.55G>A NP_001186088.1:p.Val19Met
NM_153370.2:c.55G>A NP_699201.2:p.Val19Met
XM_005248917.1:c.55G>A XP_005248974.1:p.Val19Met
XM_011514375.1:c.55G>A XP_011512677.1:p.Val19Met
XM_005248917.3:c.55G>A XP_005248974.1:p.Val19Met
XM_011514375.3:c.55G>A XP_011512677.1:p.Val19Met
XM_017010430.2:c.55G>A XP_016865919.1:p.Val19Met
NM_153370.3:c.55G>A MANE Select NP_699201.2:p.Val19Met
NM_001199159.2:c.55G>A NP_001186088.1:p.Val19Met