Canonical Allele Identifier: CA361027723
Gene: PITX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1940061
dbSNP Id: rs1240871076

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135029038A>G , CM000667.2:g.135029038A>G GRCh38
NC_000005.9:g.134364728A>G , CM000667.1:g.134364728A>G GRCh37
NC_000005.8:g.134392627A>G NCBI36
NG_012114.1:g.10237T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.686T>C MANE Select ENSP00000265340.6:p.Met229Thr
ENST00000265340.11:c.686T>C ENSP00000265340.6:p.Met229Thr
ENST00000506438.5:c.686T>C ENSP00000427542.1:p.Met229Thr
NM_002653.4:c.686T>C NP_002644.4:p.Met229Thr
NM_002653.5:c.686T>C MANE Select NP_002644.4:p.Met229Thr