Canonical Allele Identifier: CA6702421

Gene: PTPRQ

Linked Data

• dbSNP Id: rs771983585
• ExAC: 12:80878422 C / T
• gnomAD v2: 12-80878422-C-T
• gnomAD v3: 12-80484643-C-T
• gnomAD v4: 12-80484643-C-T
• MyVariant Identifiers: chr12:g.80878422C>T (hg19) ; chr12:g.80484643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484643C>T , CM000674.2:g.80484643C>T	GRCh38
NC_000012.11:g.80878422C>T , CM000674.1:g.80878422C>T	GRCh37
NC_000012.10:g.79402553C>T	NCBI36
NG_034052.1:g.45298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1359+38C>T MANE Select	ENSP00000495607.1:n.1359+38C>T
ENST00000614701.4:c.1359+38C>T	ENSP00000482885.1:n.1359+38C>T
ENST00000616559.4:c.1485+38C>T	ENSP00000483259.1:n.1485+38C>T
NM_001145026.1:c.1359+38C>T	NP_001138498.1:n.1359+38C>T
XM_011538290.1:c.1359+38C>T	XP_011536592.1:n.1359+38C>T
XM_017019273.1:c.2025+38C>T	XP_016874762.1:n.2025+38C>T
XM_017019274.1:c.2025+38C>T	XP_016874763.1:n.2025+38C>T
XM_017019275.1:c.2025+38C>T	XP_016874764.1:n.2025+38C>T
XR_001748688.1:n.2162+38C>T
XR_001748689.1:n.2162+38C>T
NM_001145026.2:c.1359+38C>T MANE Select	NP_001138498.1:n.1359+38C>T