Canonical Allele Identifier: CA377485433

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1508866
• ClinVar RCV Id: RCV002040530
• dbSNP Id: rs1554825502
• MyVariant Identifiers: chr10:g.89720657A>C (hg19) ; chr10:g.87960900A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960900A>C , CM000672.2:g.87960900A>C	GRCh38
NC_000010.10:g.89720657A>C , CM000672.1:g.89720657A>C	GRCh37
NC_000010.9:g.89710637A>C	NCBI36
NG_007466.2:g.102462A>C , LRG_311:g.102462A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.901A>C	ENSP00000514759.2:p.Met301Leu
ENST00000710265.1:c.808A>C	ENSP00000518161.1:p.Met270Leu
ENST00000472832.3:c.808A>C	ENSP00000483066.2:p.Met270Leu
ENST00000688158.2:n.1543A>C
ENST00000688922.2:c.*638A>C	ENSP00000508742.2:n.*638A>C
ENST00000700021.1:c.763A>C	ENSP00000514757.1:p.Met255Leu
ENST00000700022.1:c.*147A>C	ENSP00000514758.1:n.*147A>C
ENST00000700023.1:n.1966A>C
ENST00000700024.1:n.2200A>C
ENST00000700025.1:n.1577A>C
ENST00000700026.1:n.445A>C
ENST00000700029.1:c.735A>C
ENST00000706954.1:c.808A>C	ENSP00000516674.1:p.Met270Leu
ENST00000706955.1:c.*843A>C	ENSP00000516675.1:n.*843A>C
ENST00000686459.1:c.*394A>C	ENSP00000508909.1:n.*394A>C
ENST00000688158.1:c.*919A>C	ENSP00000509254.1:n.*919A>C
ENST00000688308.1:c.808A>C	ENSP00000508752.1:p.Met270Leu
ENST00000688922.1:c.729A>C
ENST00000693560.1:c.1327A>C	ENSP00000509861.1:p.Met443Leu
ENST00000371953.8:c.808A>C MANE Select	ENSP00000361021.3:p.Met270Leu
ENST00000371953.7:c.808A>C	ENSP00000361021.3:p.Met270Leu
ENST00000472832.2:c.235A>C	ENSP00000483066.1:p.Met79Leu
NM_000314.5:c.808A>C	NP_000305.3:p.Met270Leu
NM_000314.6:c.808A>C	NP_000305.3:p.Met270Leu
NM_001304717.2:c.1327A>C	NP_001291646.2:p.Met443Leu
NM_001304718.1:c.217A>C	NP_001291647.1:p.Met73Leu
XM_006717926.2:c.763A>C	XP_006717989.1:p.Met255Leu
XM_011539981.1:c.808A>C	XP_011538283.1:p.Met270Leu
XM_011539982.1:c.712A>C	XP_011538284.1:p.Met238Leu
XR_945791.1:n.1378A>C
NM_000314.7:c.808A>C	NP_000305.3:p.Met270Leu
NM_001304717.5:c.1327A>C	NP_001291646.4:p.Met443Leu
NM_001304718.2:c.217A>C	NP_001291647.1:p.Met73Leu
NM_000314.8:c.808A>C MANE Select	NP_000305.3:p.Met270Leu