Canonical Allele Identifier: CA1314421

Gene: PTPRC

Linked Data

• ClinVar Variation Id: 533075
• ClinVar RCV Id: RCV000640075 ; RCV003420122
• dbSNP Id: rs114764326
• ExAC: 1:198665894 A / G
• gnomAD v2: 1-198665894-A-G
• gnomAD v3: 1-198696765-A-G
• gnomAD v4: 1-198696765-A-G
• MyVariant Identifiers: chr1:g.198665894A>G (hg19) ; chr1:g.198665894_198665895delinsGC (hg19) ; chr1:g.198696765A>G (hg38) ; chr1:g.198696765_198696766delinsGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.198696765A>G , CM000663.2:g.198696765A>G	GRCh38
NC_000001.10:g.198665894A>G , CM000663.1:g.198665894A>G	GRCh37
NC_000001.9:g.196932517A>G	NCBI36
NG_007730.1:g.62670A>G
NG_007730.2:g.62671A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697630.1:n.186+4392A>G
ENST00000697631.1:c.154A>G	ENSP00000513363.1:p.Thr52Ala
ENST00000697632.1:c.-456+4392A>G	ENSP00000513364.1:n.-456+4392A>G
ENST00000348564.11:c.100+4392A>G	ENSP00000306782.7:n.100+4392A>G
ENST00000367379.6:c.100+4392A>G	ENSP00000356349.2:n.100+4392A>G
ENST00000442510.8:c.154A>G MANE Select	ENSP00000411355.3:p.Thr52Ala
ENST00000643513.1:c.101-2799A>G	ENSP00000494132.1:n.101-2799A>G
ENST00000645247.1:c.223+2625A>G	ENSP00000494327.1:n.223+2625A>G
ENST00000348564.10:c.100+4392A>G	ENSP00000306782.7:n.100+4392A>G
ENST00000367367.8:c.101-2799A>G	ENSP00000356337.5:n.101-2799A>G
ENST00000367379.5:c.100+4392A>G	ENSP00000356349.2:n.100+4392A>G
ENST00000391970.3:n.75-2799A>G
ENST00000418674.1:c.154A>G	ENSP00000393360.2:p.Thr52Ala
ENST00000427110.6:n.75-2799A>G
ENST00000442510.6:c.154A>G	ENSP00000411355.3:p.Thr52Ala
ENST00000462363.6:n.209-2799A>G
ENST00000529828.5:c.154A>G	ENSP00000469141.1:p.Thr52Ala
ENST00000530727.5:c.101-2799A>G	ENSP00000433536.2:n.101-2799A>G
NM_002838.4:c.154A>G	NP_002829.3:p.Thr52Ala
NM_080921.3:c.100+4392A>G	NP_563578.2:n.100+4392A>G
XM_006711472.2:c.154A>G	XP_006711535.1:p.Thr52Ala
XM_006711473.2:c.101-2799A>G	XP_006711536.1:n.101-2799A>G
XM_006711474.2:c.101-2799A>G	XP_006711537.1:n.101-2799A>G
XM_006711472.4:c.154A>G	XP_006711535.1:p.Thr52Ala
XM_006711473.3:c.101-2799A>G	XP_006711536.1:n.101-2799A>G
XM_006711474.3:c.101-2799A>G	XP_006711537.1:n.101-2799A>G
NM_002838.5:c.154A>G MANE Select	NP_002829.3:p.Thr52Ala
NM_080921.4:c.100+4392A>G	NP_563578.2:n.100+4392A>G