Canonical Allele Identifier: CA1584341458
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031128A= , CM000667.2:g.135031128A= GRCh38
NC_000005.9:g.134366818A= , CM000667.1:g.134366818A= GRCh37
NC_000005.8:g.134394717A= NCBI36
NG_012114.1:g.8147T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.402+148T= MANE Select ENSP00000265340.6:n.402+148T=
ENST00000265340.11:c.402+148T= ENSP00000265340.6:n.402+148T=
ENST00000503586.1:c.524+148T=
ENST00000504936.1:n.735+148T=
ENST00000506438.5:c.402+148T= ENSP00000427542.1:n.402+148T=
NM_002653.4:c.402+148T= NP_002644.4:n.402+148T=
NM_002653.5:c.402+148T= MANE Select NP_002644.4:n.402+148T=