Canonical Allele Identifier: CA1584341737
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031354G= , CM000667.2:g.135031354G= GRCh38
NC_000005.9:g.134367044G= , CM000667.1:g.134367044G= GRCh37
NC_000005.8:g.134394943G= NCBI36
NG_012114.1:g.7921C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.324C= MANE Select ENSP00000265340.6:p.Phe108=
ENST00000265340.11:c.324C= ENSP00000265340.6:p.Phe108=
ENST00000502676.1:c.324C= ENSP00000423624.1:p.Phe108=
ENST00000503586.1:c.446C=
ENST00000504936.1:n.657C=
ENST00000506438.5:c.324C= ENSP00000427542.1:p.Phe108=
ENST00000507253.5:c.324C= ENSP00000422908.1:p.Phe108=
NM_002653.4:c.324C= NP_002644.4:p.Phe108=
NM_002653.5:c.324C= MANE Select NP_002644.4:p.Phe108=