Canonical Allele Identifier: CA385876154

Gene: PTPRQ

Linked Data

• dbSNP Id: rs1191475251
• gnomAD v2: 12-80849454-G-A
• gnomAD v3: 12-80460723-C-T
• gnomAD v4: 12-80460723-C-T
• MyVariant Identifiers: chr12:g.80849454G>A (hg19) ; chr12:g.80460723C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460723C>T , CM000674.2:g.80460723C>T	GRCh38
NC_000012.11:g.80849454G>A , CM000674.1:g.80849454G>A	GRCh37
NC_000012.10:g.79373585G>A	NCBI36
NG_034052.1:g.21378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.731C>T MANE Select	ENSP00000495607.1:p.Ser244Leu
ENST00000614701.4:c.731C>T	ENSP00000482885.1:p.Ser244Leu
ENST00000616559.4:c.857C>T	ENSP00000483259.1:p.Ser286Leu
NM_001145026.1:c.731C>T	NP_001138498.1:p.Ser244Leu
XM_011538290.1:c.731C>T	XP_011536592.1:p.Ser244Leu
XM_017019273.1:c.1397C>T	XP_016874762.1:p.Ser466Leu
XM_017019274.1:c.1397C>T	XP_016874763.1:p.Ser466Leu
XM_017019275.1:c.1397C>T	XP_016874764.1:p.Ser466Leu
XR_001748688.1:n.1534C>T
XR_001748689.1:n.1534C>T
NM_001145026.2:c.731C>T MANE Select	NP_001138498.1:p.Ser244Leu