Canonical Allele Identifier: CA1584341724
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031331A= , CM000667.2:g.135031331A= GRCh38
NC_000005.9:g.134367021A= , CM000667.1:g.134367021A= GRCh37
NC_000005.8:g.134394920A= NCBI36
NG_012114.1:g.7944T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.347T= MANE Select ENSP00000265340.6:p.Met116=
ENST00000265340.11:c.347T= ENSP00000265340.6:p.Met116=
ENST00000503586.1:c.469T=
ENST00000504936.1:n.680T=
ENST00000506438.5:c.347T= ENSP00000427542.1:p.Met116=
ENST00000507253.5:c.347T= ENSP00000422908.1:p.Met116=
NM_002653.4:c.347T= NP_002644.4:p.Met116=
NM_002653.5:c.347T= MANE Select NP_002644.4:p.Met116=