Canonical Allele Identifier: CA361028644
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1752445479

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031397G>A , CM000667.2:g.135031397G>A GRCh38
NC_000005.9:g.134367087G>A , CM000667.1:g.134367087G>A GRCh37
NC_000005.8:g.134394986G>A NCBI36
NG_012114.1:g.7878C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.281C>T MANE Select ENSP00000265340.6:p.Thr94Met
ENST00000265340.11:c.281C>T ENSP00000265340.6:p.Thr94Met
ENST00000502676.1:c.281C>T ENSP00000423624.1:p.Thr94Met
ENST00000503586.1:c.403C>T
ENST00000504936.1:n.614C>T
ENST00000506438.5:c.281C>T ENSP00000427542.1:p.Thr94Met
ENST00000507253.5:c.281C>T ENSP00000422908.1:p.Thr94Met
NM_002653.4:c.281C>T NP_002644.4:p.Thr94Met
NM_002653.5:c.281C>T MANE Select NP_002644.4:p.Thr94Met