Canonical Allele Identifier: CA361028372
Gene: PITX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1319178
ClinVar RCV Id: RCV003238498
dbSNP Id: rs2149560656

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031280A>T , CM000667.2:g.135031280A>T GRCh38
NC_000005.9:g.134366970A>T , CM000667.1:g.134366970A>T GRCh37
NC_000005.8:g.134394869A>T NCBI36
NG_012114.1:g.7995T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.398T>A MANE Select ENSP00000265340.6:p.Val133Glu
ENST00000265340.11:c.398T>A ENSP00000265340.6:p.Val133Glu
ENST00000503586.1:c.520T>A
ENST00000504936.1:n.731T>A
ENST00000506438.5:c.398T>A ENSP00000427542.1:p.Val133Glu
NM_002653.4:c.398T>A NP_002644.4:p.Val133Glu
NM_002653.5:c.398T>A MANE Select NP_002644.4:p.Val133Glu