Canonical Allele Identifier: CA1584338854
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028860C= , CM000667.2:g.135028860C= GRCh38
NC_000005.9:g.134364550C= , CM000667.1:g.134364550C= GRCh37
NC_000005.8:g.134392449C= NCBI36
NG_012114.1:g.10415G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.864G= MANE Select ENSP00000265340.6:p.Lys288=
ENST00000265340.11:c.864G= ENSP00000265340.6:p.Lys288=
ENST00000506438.5:c.864G= ENSP00000427542.1:p.Lys288=
NM_002653.4:c.864G= NP_002644.4:p.Lys288=
NM_002653.5:c.864G= MANE Select NP_002644.4:p.Lys288=