Canonical Allele Identifier: CA147019062

Gene: PTPRK

Linked Data

• dbSNP Id: rs1040530644
• gnomAD v3: 6-128492701-C-T
• gnomAD v4: 6-128492701-C-T
• MyVariant Identifiers: chr6:g.128813846C>T (hg19) ; chr6:g.128492701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.128492701C>T , CM000668.2:g.128492701C>T	GRCh38
NC_000006.11:g.128813846C>T , CM000668.1:g.128813846C>T	GRCh37
NC_000006.10:g.128855539C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000368226.9:c.100+27558G>A MANE Select	ENSP00000357209.4:n.100+27558G>A
ENST00000368207.7:c.100+27558G>A	ENSP00000357190.3:n.100+27558G>A
ENST00000368210.7:c.100+27558G>A	ENSP00000357193.3:n.100+27558G>A
ENST00000368213.9:c.100+27558G>A	ENSP00000357196.5:n.100+27558G>A
ENST00000368215.7:c.100+27558G>A	ENSP00000357198.3:n.100+27558G>A
ENST00000368226.8:c.100+27558G>A	ENSP00000357209.4:n.100+27558G>A
ENST00000392449.4:c.101-852G>A	ENSP00000376243.4:n.101-852G>A
ENST00000524481.5:n.341+27558G>A
ENST00000524534.5:n.257+27558G>A
ENST00000525459.1:c.100+27558G>A	ENSP00000434116.1:n.100+27558G>A
ENST00000532331.5:c.100+27558G>A	ENSP00000432973.1:n.100+27558G>A
ENST00000532751.1:c.100+27558G>A	ENSP00000437299.1:n.100+27558G>A
NM_001135648.2:c.100+27558G>A	NP_001129120.1:n.100+27558G>A
NM_001291981.1:c.100+27558G>A	NP_001278910.1:n.100+27558G>A
NM_001291982.1:c.100+27558G>A	NP_001278911.1:n.100+27558G>A
NM_001291983.1:c.-16+27558G>A	NP_001278912.1:n.-16+27558G>A
NM_001291984.1:c.100+27558G>A	NP_001278913.1:n.100+27558G>A
NM_002844.3:c.100+27558G>A	NP_002835.2:n.100+27558G>A
XM_006715537.1:c.100+27558G>A	XP_006715600.1:n.100+27558G>A
XM_011536014.1:c.100+27558G>A	XP_011534316.1:n.100+27558G>A
XM_011536015.1:c.100+27558G>A	XP_011534317.1:n.100+27558G>A
XM_011536016.1:c.100+27558G>A	XP_011534318.1:n.100+27558G>A
XM_011536017.1:c.-231-852G>A	XP_011534319.1:n.-231-852G>A
XM_011536018.1:c.-153+27558G>A	XP_011534320.1:n.-153+27558G>A
XM_011536020.1:c.100+27558G>A	XP_011534322.1:n.100+27558G>A
XM_011536021.1:c.100+27558G>A	XP_011534323.1:n.100+27558G>A
XM_006715537.3:c.100+27558G>A	XP_006715600.1:n.100+27558G>A
XM_011536014.3:c.100+27558G>A	XP_011534316.1:n.100+27558G>A
XM_011536015.3:c.100+27558G>A	XP_011534317.1:n.100+27558G>A
XM_011536016.3:c.100+27558G>A	XP_011534318.1:n.100+27558G>A
XM_011536017.3:c.-231-852G>A	XP_011534319.1:n.-231-852G>A
XM_011536018.2:c.-153+27558G>A	XP_011534320.1:n.-153+27558G>A
XM_011536020.3:c.100+27558G>A	XP_011534322.1:n.100+27558G>A
XM_011536021.3:c.100+27558G>A	XP_011534323.1:n.100+27558G>A
XM_017011145.1:c.-231-852G>A	XP_016866634.1:n.-231-852G>A
XM_017011146.1:c.-153+27558G>A	XP_016866635.1:n.-153+27558G>A
XM_017011147.1:c.-153+27558G>A	XP_016866636.1:n.-153+27558G>A
XM_017011148.1:c.-153+27558G>A	XP_016866637.1:n.-153+27558G>A
NM_001135648.3:c.100+27558G>A	NP_001129120.1:n.100+27558G>A
NM_001291981.2:c.100+27558G>A	NP_001278910.1:n.100+27558G>A
NM_001291982.2:c.100+27558G>A	NP_001278911.1:n.100+27558G>A
NM_001291983.2:c.-16+27558G>A	NP_001278912.1:n.-16+27558G>A
NM_001291984.2:c.100+27558G>A	NP_001278913.1:n.100+27558G>A
NM_002844.4:c.100+27558G>A MANE Select	NP_002835.2:n.100+27558G>A