Canonical Allele Identifier: CA385883446

Gene: PTPRQ

Linked Data

• gnomAD v4: 12-80484435-C-G
• MyVariant Identifiers: chr12:g.80878214C>G (hg19) ; chr12:g.80484435C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484435C>G , CM000674.2:g.80484435C>G	GRCh38
NC_000012.11:g.80878214C>G , CM000674.1:g.80878214C>G	GRCh37
NC_000012.10:g.79402345C>G	NCBI36
NG_034052.1:g.45090C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644991.3:c.1189C>G MANE Select	ENSP00000495607.1:p.Pro397Ala
ENST00000614701.4:c.1189C>G	ENSP00000482885.1:p.Pro397Ala
ENST00000616559.4:c.1315C>G	ENSP00000483259.1:p.Pro439Ala
NM_001145026.1:c.1189C>G	NP_001138498.1:p.Pro397Ala
XM_011538290.1:c.1189C>G	XP_011536592.1:p.Pro397Ala
XM_017019273.1:c.1855C>G	XP_016874762.1:p.Pro619Ala
XM_017019274.1:c.1855C>G	XP_016874763.1:p.Pro619Ala
XM_017019275.1:c.1855C>G	XP_016874764.1:p.Pro619Ala
XR_001748688.1:n.1992C>G
XR_001748689.1:n.1992C>G
NM_001145026.2:c.1189C>G MANE Select	NP_001138498.1:p.Pro397Ala