Canonical Allele Identifier: CA385884054

Gene: PTPRQ

Linked Data

• MyVariant Identifiers: chr12:g.80878331G>C (hg19) ; chr12:g.80484552G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484552G>C , CM000674.2:g.80484552G>C	GRCh38
NC_000012.11:g.80878331G>C , CM000674.1:g.80878331G>C	GRCh37
NC_000012.10:g.79402462G>C	NCBI36
NG_034052.1:g.45207G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1306G>C MANE Select	ENSP00000495607.1:p.Val436Leu
ENST00000614701.4:c.1306G>C	ENSP00000482885.1:p.Val436Leu
ENST00000616559.4:c.1432G>C	ENSP00000483259.1:p.Val478Leu
NM_001145026.1:c.1306G>C	NP_001138498.1:p.Val436Leu
XM_011538290.1:c.1306G>C	XP_011536592.1:p.Val436Leu
XM_017019273.1:c.1972G>C	XP_016874762.1:p.Val658Leu
XM_017019274.1:c.1972G>C	XP_016874763.1:p.Val658Leu
XM_017019275.1:c.1972G>C	XP_016874764.1:p.Val658Leu
XR_001748688.1:n.2109G>C
XR_001748689.1:n.2109G>C
NM_001145026.2:c.1306G>C MANE Select	NP_001138498.1:p.Val436Leu