Canonical Allele Identifier: CA240226815

Gene: PTPRQ

Linked Data

• dbSNP Id: rs977581830
• gnomAD v3: 12-80460721-A-G
• gnomAD v4: 12-80460721-A-G
• MyVariant Identifiers: chr12:g.80849456T>C (hg19) ; chr12:g.80460721A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460721A>G , CM000674.2:g.80460721A>G	GRCh38
NC_000012.11:g.80849456T>C , CM000674.1:g.80849456T>C	GRCh37
NC_000012.10:g.79373587T>C	NCBI36
NG_034052.1:g.21376A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.729A>G MANE Select	ENSP00000495607.1:p.Pro243=
ENST00000614701.4:c.729A>G	ENSP00000482885.1:p.Pro243=
ENST00000616559.4:c.855A>G	ENSP00000483259.1:p.Pro285=
NM_001145026.1:c.729A>G	NP_001138498.1:p.Pro243=
XM_011538290.1:c.729A>G	XP_011536592.1:p.Pro243=
XM_017019273.1:c.1395A>G	XP_016874762.1:p.Pro465=
XM_017019274.1:c.1395A>G	XP_016874763.1:p.Pro465=
XM_017019275.1:c.1395A>G	XP_016874764.1:p.Pro465=
XR_001748688.1:n.1532A>G
XR_001748689.1:n.1532A>G
NM_001145026.2:c.729A>G MANE Select	NP_001138498.1:p.Pro243=