Canonical Allele Identifier: CA1584341692
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031304C= , CM000667.2:g.135031304C= GRCh38
NC_000005.9:g.134366994C= , CM000667.1:g.134366994C= GRCh37
NC_000005.8:g.134394893C= NCBI36
NG_012114.1:g.7971G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.374G= MANE Select ENSP00000265340.6:p.Trp125=
ENST00000265340.11:c.374G= ENSP00000265340.6:p.Trp125=
ENST00000503586.1:c.496G=
ENST00000504936.1:n.707G=
ENST00000506438.5:c.374G= ENSP00000427542.1:p.Trp125=
ENST00000507253.5:c.374G= ENSP00000422908.1:p.Trp125=
NM_002653.4:c.374G= NP_002644.4:p.Trp125=
NM_002653.5:c.374G= MANE Select NP_002644.4:p.Trp125=