Canonical Allele Identifier: CA1584341730
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031336G= , CM000667.2:g.135031336G= GRCh38
NC_000005.9:g.134367026G= , CM000667.1:g.134367026G= GRCh37
NC_000005.8:g.134394925G= NCBI36
NG_012114.1:g.7939C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.342C= MANE Select ENSP00000265340.6:p.Pro114=
ENST00000265340.11:c.342C= ENSP00000265340.6:p.Pro114=
ENST00000502676.1:c.342C= ENSP00000423624.1:p.Pro114=
ENST00000503586.1:c.464C=
ENST00000504936.1:n.675C=
ENST00000506438.5:c.342C= ENSP00000427542.1:p.Pro114=
ENST00000507253.5:c.342C= ENSP00000422908.1:p.Pro114=
NM_002653.4:c.342C= NP_002644.4:p.Pro114=
NM_002653.5:c.342C= MANE Select NP_002644.4:p.Pro114=