Canonical Allele Identifier: CA3781909

Gene: PI16

Linked Data

• dbSNP Id: rs754397097
• ExAC: 6:36922592 T / C
• gnomAD v2: 6-36922592-T-C
• gnomAD v4: 6-36954816-T-C
• MyVariant Identifiers: chr6:g.36922592T>C (hg19) ; chr6:g.36954816T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36954816T>C , CM000668.2:g.36954816T>C	GRCh38
NC_000006.11:g.36922592T>C , CM000668.1:g.36922592T>C	GRCh37
NC_000006.10:g.37030570T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373674.4:c.56T>C MANE Select	ENSP00000362778.3:p.Val19Ala
ENST00000647861.1:c.56T>C	ENSP00000497550.1:p.Val19Ala
ENST00000373674.3:c.56T>C	ENSP00000362778.3:p.Val19Ala
ENST00000611814.4:c.56T>C	ENSP00000478888.1:p.Val19Ala
NM_001199159.1:c.56T>C	NP_001186088.1:p.Val19Ala
NM_153370.2:c.56T>C	NP_699201.2:p.Val19Ala
XM_005248917.1:c.56T>C	XP_005248974.1:p.Val19Ala
XM_011514375.1:c.56T>C	XP_011512677.1:p.Val19Ala
XM_005248917.3:c.56T>C	XP_005248974.1:p.Val19Ala
XM_011514375.3:c.56T>C	XP_011512677.1:p.Val19Ala
XM_017010430.2:c.56T>C	XP_016865919.1:p.Val19Ala
NM_153370.3:c.56T>C MANE Select	NP_699201.2:p.Val19Ala
NM_001199159.2:c.56T>C	NP_001186088.1:p.Val19Ala