Canonical Allele Identifier: CA606209323

Gene: PTPRQ

Linked Data

• dbSNP Id: rs1041881258
• gnomAD v2: 12-80878417-C-A
• gnomAD v4: 12-80484638-C-A
• MyVariant Identifiers: chr12:g.80878417C>A (hg19) ; chr12:g.80484638C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484638C>A , CM000674.2:g.80484638C>A	GRCh38
NC_000012.11:g.80878417C>A , CM000674.1:g.80878417C>A	GRCh37
NC_000012.10:g.79402548C>A	NCBI36
NG_034052.1:g.45293C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1359+33C>A MANE Select	ENSP00000495607.1:n.1359+33C>A
ENST00000614701.4:c.1359+33C>A	ENSP00000482885.1:n.1359+33C>A
ENST00000616559.4:c.1485+33C>A	ENSP00000483259.1:n.1485+33C>A
NM_001145026.1:c.1359+33C>A	NP_001138498.1:n.1359+33C>A
XM_011538290.1:c.1359+33C>A	XP_011536592.1:n.1359+33C>A
XM_017019273.1:c.2025+33C>A	XP_016874762.1:n.2025+33C>A
XM_017019274.1:c.2025+33C>A	XP_016874763.1:n.2025+33C>A
XM_017019275.1:c.2025+33C>A	XP_016874764.1:n.2025+33C>A
XR_001748688.1:n.2162+33C>A
XR_001748689.1:n.2162+33C>A
NM_001145026.2:c.1359+33C>A MANE Select	NP_001138498.1:n.1359+33C>A