Canonical Allele Identifier: CA2671321689

Gene: PTPN13

Linked Data

• gnomAD v4: 4-86762598-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.86762598C>T , CM000666.2:g.86762598C>T	GRCh38
NC_000004.11:g.87683751C>T , CM000666.1:g.87683751C>T	GRCh37
NC_000004.10:g.87902775C>T	NCBI36
NG_029704.1:g.173284C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000411767.7:c.3554-129C>T MANE Select	ENSP00000407249.2:n.3554-129C>T
ENST00000316707.10:c.2981-129C>T	ENSP00000322675.6:n.2981-129C>T
ENST00000411767.6:c.3554-129C>T	ENSP00000407249.2:n.3554-129C>T
ENST00000427191.6:c.3497-129C>T	ENSP00000408368.2:n.3497-129C>T
ENST00000436978.5:c.3554-129C>T	ENSP00000394794.1:n.3554-129C>T
ENST00000508063.1:n.250-129C>T
ENST00000511467.1:c.3554-129C>T	ENSP00000426626.1:n.3554-129C>T
NM_006264.2:c.3497-129C>T	NP_006255.1:n.3497-129C>T
NM_080683.2:c.3554-129C>T	NP_542414.1:n.3554-129C>T
NM_080684.2:c.2981-129C>T	NP_542415.1:n.2981-129C>T
NM_080685.2:c.3554-129C>T	NP_542416.1:n.3554-129C>T
XM_005263167.1:c.3572-129C>T	XP_005263224.1:n.3572-129C>T
XM_011532163.1:c.3572-129C>T	XP_011530465.1:n.3572-129C>T
XM_011532164.1:c.3572-129C>T	XP_011530466.1:n.3572-129C>T
XM_011532165.1:c.3554-129C>T	XP_011530467.1:n.3554-129C>T
XM_011532166.1:c.3572-129C>T	XP_011530468.1:n.3572-129C>T
XM_011532167.1:c.3515-129C>T	XP_011530469.1:n.3515-129C>T
XM_011532168.1:c.3572-129C>T	XP_011530470.1:n.3572-129C>T
XM_011532169.1:c.3515-129C>T	XP_011530471.1:n.3515-129C>T
XM_011532170.1:c.3011-129C>T	XP_011530472.1:n.3011-129C>T
XM_011532171.1:c.2999-129C>T	XP_011530473.1:n.2999-129C>T
XM_011532172.1:c.2999-129C>T	XP_011530474.1:n.2999-129C>T
XM_011532165.2:c.3554-129C>T	XP_011530467.1:n.3554-129C>T
XM_017008511.2:c.3554-129C>T	XP_016864000.1:n.3554-129C>T
XM_017008512.2:c.3497-129C>T	XP_016864001.1:n.3497-129C>T
XM_017008513.2:c.3497-129C>T	XP_016864002.1:n.3497-129C>T
XM_017008514.2:c.3497-129C>T	XP_016864003.1:n.3497-129C>T
XM_017008515.2:c.2993-129C>T	XP_016864004.1:n.2993-129C>T
XM_017008516.2:c.2981-129C>T	XP_016864005.1:n.2981-129C>T
NM_080683.3:c.3554-129C>T MANE Select	NP_542414.1:n.3554-129C>T
NM_006264.3:c.3497-129C>T	NP_006255.1:n.3497-129C>T
NM_080684.3:c.2981-129C>T	NP_542415.1:n.2981-129C>T
NM_080685.3:c.3554-129C>T	NP_542416.1:n.3554-129C>T