Canonical Allele Identifier: CA385884133

Gene: PTPRQ

Linked Data

• MyVariant Identifiers: chr12:g.80878349A>T (hg19) ; chr12:g.80484570A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484570A>T , CM000674.2:g.80484570A>T	GRCh38
NC_000012.11:g.80878349A>T , CM000674.1:g.80878349A>T	GRCh37
NC_000012.10:g.79402480A>T	NCBI36
NG_034052.1:g.45225A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1324A>T MANE Select	ENSP00000495607.1:p.Ile442Phe
ENST00000614701.4:c.1324A>T	ENSP00000482885.1:p.Ile442Phe
ENST00000616559.4:c.1450A>T	ENSP00000483259.1:p.Ile484Phe
NM_001145026.1:c.1324A>T	NP_001138498.1:p.Ile442Phe
XM_011538290.1:c.1324A>T	XP_011536592.1:p.Ile442Phe
XM_017019273.1:c.1990A>T	XP_016874762.1:p.Ile664Phe
XM_017019274.1:c.1990A>T	XP_016874763.1:p.Ile664Phe
XM_017019275.1:c.1990A>T	XP_016874764.1:p.Ile664Phe
XR_001748688.1:n.2127A>T
XR_001748689.1:n.2127A>T
NM_001145026.2:c.1324A>T MANE Select	NP_001138498.1:p.Ile442Phe