Canonical Allele Identifier: CA731282194

Gene: PTPN14

Linked Data

• dbSNP Id: rs1368420704
• gnomAD v3: 1-214501599-C-T
• gnomAD v4: 1-214501599-C-T
• MyVariant Identifiers: chr1:g.214674942C>T (hg19) ; chr1:g.214501599C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.214501599C>T , CM000663.2:g.214501599C>T	GRCh38
NC_000001.10:g.214674942C>T , CM000663.1:g.214674942C>T	GRCh37
NC_000001.9:g.212741565C>T	NCBI36
NG_028036.1:g.55083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366956.10:c.-154-36642G>A MANE Select	ENSP00000355923.4:n.-154-36642G>A
ENST00000366956.9:c.-154-36642G>A	ENSP00000355923.4:n.-154-36642G>A
ENST00000486173.1:n.232-36642G>A
ENST00000543945.5:c.-154-36642G>A	ENSP00000443330.1:n.-154-36642G>A
NM_005401.4:c.-154-36642G>A	NP_005392.2:n.-154-36642G>A
XR_247032.3:n.421-36642G>A
XM_017001941.1:c.-155+31718G>A	XP_016857430.1:n.-155+31718G>A
XM_024448759.1:c.-155+30865G>A	XP_024304527.1:n.-155+30865G>A
NM_005401.5:c.-154-36642G>A MANE Select	NP_005392.2:n.-154-36642G>A