Canonical Allele Identifier: CA361028485
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1422587604

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031330C>T , CM000667.2:g.135031330C>T GRCh38
NC_000005.9:g.134367020C>T , CM000667.1:g.134367020C>T GRCh37
NC_000005.8:g.134394919C>T NCBI36
NG_012114.1:g.7945G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.348G>A MANE Select ENSP00000265340.6:p.Met116Ile
ENST00000265340.11:c.348G>A ENSP00000265340.6:p.Met116Ile
ENST00000503586.1:c.470G>A
ENST00000504936.1:n.681G>A
ENST00000506438.5:c.348G>A ENSP00000427542.1:p.Met116Ile
ENST00000507253.5:c.348G>A ENSP00000422908.1:p.Met116Ile
NM_002653.4:c.348G>A NP_002644.4:p.Met116Ile
NM_002653.5:c.348G>A MANE Select NP_002644.4:p.Met116Ile