Canonical Allele Identifier: CA3781934

Gene: PI16

Linked Data

• dbSNP Id: rs780797345
• ExAC: 6:36922687 G / A
• gnomAD v2: 6-36922687-G-A
• gnomAD v4: 6-36954911-G-A
• MyVariant Identifiers: chr6:g.36922687G>A (hg19) ; chr6:g.36954911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36954911G>A , CM000668.2:g.36954911G>A	GRCh38
NC_000006.11:g.36922687G>A , CM000668.1:g.36922687G>A	GRCh37
NC_000006.10:g.37030665G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000373674.4:c.151G>A MANE Select	ENSP00000362778.3:p.Ala51Thr
ENST00000647861.1:c.151G>A	ENSP00000497550.1:p.Ala51Thr
ENST00000373674.3:c.151G>A	ENSP00000362778.3:p.Ala51Thr
ENST00000611814.4:c.151G>A	ENSP00000478888.1:p.Ala51Thr
NM_001199159.1:c.151G>A	NP_001186088.1:p.Ala51Thr
NM_153370.2:c.151G>A	NP_699201.2:p.Ala51Thr
XM_005248917.1:c.151G>A	XP_005248974.1:p.Ala51Thr
XM_011514375.1:c.151G>A	XP_011512677.1:p.Ala51Thr
XM_005248917.3:c.151G>A	XP_005248974.1:p.Ala51Thr
XM_011514375.3:c.151G>A	XP_011512677.1:p.Ala51Thr
XM_017010430.2:c.151G>A	XP_016865919.1:p.Ala51Thr
NM_153370.3:c.151G>A MANE Select	NP_699201.2:p.Ala51Thr
NM_001199159.2:c.151G>A	NP_001186088.1:p.Ala51Thr