Canonical Allele Identifier: CA385883457

Gene: PTPRQ

Linked Data

• gnomAD v4: 12-80484436-C-T
• MyVariant Identifiers: chr12:g.80878215C>T (hg19) ; chr12:g.80484436C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484436C>T , CM000674.2:g.80484436C>T	GRCh38
NC_000012.11:g.80878215C>T , CM000674.1:g.80878215C>T	GRCh37
NC_000012.10:g.79402346C>T	NCBI36
NG_034052.1:g.45091C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644991.3:c.1190C>T MANE Select	ENSP00000495607.1:p.Pro397Leu
ENST00000614701.4:c.1190C>T	ENSP00000482885.1:p.Pro397Leu
ENST00000616559.4:c.1316C>T	ENSP00000483259.1:p.Pro439Leu
NM_001145026.1:c.1190C>T	NP_001138498.1:p.Pro397Leu
XM_011538290.1:c.1190C>T	XP_011536592.1:p.Pro397Leu
XM_017019273.1:c.1856C>T	XP_016874762.1:p.Pro619Leu
XM_017019274.1:c.1856C>T	XP_016874763.1:p.Pro619Leu
XM_017019275.1:c.1856C>T	XP_016874764.1:p.Pro619Leu
XR_001748688.1:n.1993C>T
XR_001748689.1:n.1993C>T
NM_001145026.2:c.1190C>T MANE Select	NP_001138498.1:p.Pro397Leu