Canonical Allele Identifier: CA377484349

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2081510
• ClinVar RCV Id: RCV002979733
• MyVariant Identifiers: chr10:g.89711914T>C (hg19) ; chr10:g.87952157T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952157T>C , CM000672.2:g.87952157T>C	GRCh38
NC_000010.10:g.89711914T>C , CM000672.1:g.89711914T>C	GRCh37
NC_000010.9:g.89701894T>C	NCBI36
NG_007466.2:g.93719T>C , LRG_311:g.93719T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.532T>C	ENSP00000514759.2:p.Tyr178His
ENST00000710265.1:c.532T>C	ENSP00000518161.1:p.Tyr178His
ENST00000472832.3:c.532T>C	ENSP00000483066.2:p.Tyr178His
ENST00000688158.2:n.1267T>C
ENST00000688922.2:c.*362T>C	ENSP00000508742.2:n.*362T>C
ENST00000700021.1:c.487T>C	ENSP00000514757.1:p.Tyr163His
ENST00000700022.1:c.493-5696T>C	ENSP00000514758.1:n.493-5696T>C
ENST00000700023.1:n.1690T>C
ENST00000700024.1:n.1924T>C
ENST00000700025.1:n.1301T>C
ENST00000700029.1:c.366T>C
ENST00000706954.1:c.532T>C	ENSP00000516674.1:p.Tyr178His
ENST00000706955.1:c.*567T>C	ENSP00000516675.1:n.*567T>C
ENST00000686459.1:c.*118T>C	ENSP00000508909.1:n.*118T>C
ENST00000688158.1:c.*643T>C	ENSP00000509254.1:n.*643T>C
ENST00000688308.1:c.532T>C	ENSP00000508752.1:p.Tyr178His
ENST00000688922.1:c.453T>C
ENST00000693560.1:c.1051T>C	ENSP00000509861.1:p.Tyr351His
ENST00000371953.8:c.532T>C MANE Select	ENSP00000361021.3:p.Tyr178His
ENST00000371953.7:c.532T>C	ENSP00000361021.3:p.Tyr178His
NM_000314.5:c.532T>C	NP_000305.3:p.Tyr178His
NM_000314.6:c.532T>C	NP_000305.3:p.Tyr178His
NM_001304717.2:c.1051T>C	NP_001291646.2:p.Tyr351His
NM_001304718.1:c.-60T>C	NP_001291647.1:n.-60T>C
XM_006717926.2:c.487T>C	XP_006717989.1:p.Tyr163His
XM_011539981.1:c.532T>C	XP_011538283.1:p.Tyr178His
XM_011539982.1:c.436T>C	XP_011538284.1:p.Tyr146His
XR_945789.1:n.1403T>C
XR_945790.1:n.1520T>C
XR_945791.1:n.1205-5696T>C
NM_000314.7:c.532T>C	NP_000305.3:p.Tyr178His
NM_001304717.5:c.1051T>C	NP_001291646.4:p.Tyr351His
NM_001304718.2:c.-60T>C	NP_001291647.1:n.-60T>C
NM_000314.8:c.532T>C MANE Select	NP_000305.3:p.Tyr178His