Canonical Allele Identifier: CA240226943

Gene: PTPRQ

Linked Data

• dbSNP Id: rs377478735
• gnomAD v2: 12-80849343-A-G
• gnomAD v3: 12-80460834-T-C
• gnomAD v4: 12-80460834-T-C
• MyVariant Identifiers: chr12:g.80849343A>G (hg19) ; chr12:g.80460834T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460834T>C , CM000674.2:g.80460834T>C	GRCh38
NC_000012.11:g.80849343A>G , CM000674.1:g.80849343A>G	GRCh37
NC_000012.10:g.79373474A>G	NCBI36
NG_034052.1:g.21489T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644991.3:c.842T>C MANE Select	ENSP00000495607.1:p.Phe281Ser
ENST00000614701.4:c.842T>C	ENSP00000482885.1:p.Phe281Ser
ENST00000616559.4:c.968T>C	ENSP00000483259.1:p.Phe323Ser
NM_001145026.1:c.842T>C	NP_001138498.1:p.Phe281Ser
XM_011538290.1:c.842T>C	XP_011536592.1:p.Phe281Ser
XM_017019273.1:c.1508T>C	XP_016874762.1:p.Phe503Ser
XM_017019274.1:c.1508T>C	XP_016874763.1:p.Phe503Ser
XM_017019275.1:c.1508T>C	XP_016874764.1:p.Phe503Ser
XR_001748688.1:n.1645T>C
XR_001748689.1:n.1645T>C
NM_001145026.2:c.842T>C MANE Select	NP_001138498.1:p.Phe281Ser