Canonical Allele Identifier: CA1584341805
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031413G= , CM000667.2:g.135031413G= GRCh38
NC_000005.9:g.134367103G= , CM000667.1:g.134367103G= GRCh37
NC_000005.8:g.134395002G= NCBI36
NG_012114.1:g.7862C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.265C= MANE Select ENSP00000265340.6:p.Gln89=
ENST00000265340.11:c.265C= ENSP00000265340.6:p.Gln89=
ENST00000502676.1:c.265C= ENSP00000423624.1:p.Gln89=
ENST00000503586.1:c.387C=
ENST00000504936.1:n.598C=
ENST00000506438.5:c.265C= ENSP00000427542.1:p.Gln89=
ENST00000507253.5:c.265C= ENSP00000422908.1:p.Gln89=
NM_002653.4:c.265C= NP_002644.4:p.Gln89=
NM_002653.5:c.265C= MANE Select NP_002644.4:p.Gln89=