Canonical Allele Identifier: CA37570173

Gene: PTPN14

Linked Data

• dbSNP Id: rs553725539
• gnomAD v3: 1-214501608-T-C
• gnomAD v4: 1-214501608-T-C
• MyVariant Identifiers: chr1:g.214674951T>C (hg19) ; chr1:g.214501608T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.214501608T>C , CM000663.2:g.214501608T>C	GRCh38
NC_000001.10:g.214674951T>C , CM000663.1:g.214674951T>C	GRCh37
NC_000001.9:g.212741574T>C	NCBI36
NG_028036.1:g.55074A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366956.10:c.-154-36651A>G MANE Select	ENSP00000355923.4:n.-154-36651A>G
ENST00000366956.9:c.-154-36651A>G	ENSP00000355923.4:n.-154-36651A>G
ENST00000486173.1:n.232-36651A>G
ENST00000543945.5:c.-154-36651A>G	ENSP00000443330.1:n.-154-36651A>G
NM_005401.4:c.-154-36651A>G	NP_005392.2:n.-154-36651A>G
XR_247032.3:n.421-36651A>G
XM_017001941.1:c.-155+31709A>G	XP_016857430.1:n.-155+31709A>G
XM_024448759.1:c.-155+30856A>G	XP_024304527.1:n.-155+30856A>G
NM_005401.5:c.-154-36651A>G MANE Select	NP_005392.2:n.-154-36651A>G