Canonical Allele Identifier: CA3781910

Gene: PI16

Linked Data

• dbSNP Id: rs755388075
• ExAC: 6:36922595 C / T
• gnomAD v2: 6-36922595-C-T
• gnomAD v4: 6-36954819-C-T
• MyVariant Identifiers: chr6:g.36922595C>T (hg19) ; chr6:g.36954819C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36954819C>T , CM000668.2:g.36954819C>T	GRCh38
NC_000006.11:g.36922595C>T , CM000668.1:g.36922595C>T	GRCh37
NC_000006.10:g.37030573C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373674.4:c.59C>T MANE Select	ENSP00000362778.3:p.Ala20Val
ENST00000647861.1:c.59C>T	ENSP00000497550.1:p.Ala20Val
ENST00000373674.3:c.59C>T	ENSP00000362778.3:p.Ala20Val
ENST00000611814.4:c.59C>T	ENSP00000478888.1:p.Ala20Val
NM_001199159.1:c.59C>T	NP_001186088.1:p.Ala20Val
NM_153370.2:c.59C>T	NP_699201.2:p.Ala20Val
XM_005248917.1:c.59C>T	XP_005248974.1:p.Ala20Val
XM_011514375.1:c.59C>T	XP_011512677.1:p.Ala20Val
XM_005248917.3:c.59C>T	XP_005248974.1:p.Ala20Val
XM_011514375.3:c.59C>T	XP_011512677.1:p.Ala20Val
XM_017010430.2:c.59C>T	XP_016865919.1:p.Ala20Val
NM_153370.3:c.59C>T MANE Select	NP_699201.2:p.Ala20Val
NM_001199159.2:c.59C>T	NP_001186088.1:p.Ala20Val