Canonical Allele Identifier: CA361027340
Gene: PITX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028855T>G , CM000667.2:g.135028855T>G GRCh38
NC_000005.9:g.134364545T>G , CM000667.1:g.134364545T>G GRCh37
NC_000005.8:g.134392444T>G NCBI36
NG_012114.1:g.10420A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.869A>C MANE Select ENSP00000265340.6:p.Lys290Thr
ENST00000265340.11:c.869A>C ENSP00000265340.6:p.Lys290Thr
ENST00000506438.5:c.869A>C ENSP00000427542.1:p.Lys290Thr
NM_002653.4:c.869A>C NP_002644.4:p.Lys290Thr
NM_002653.5:c.869A>C MANE Select NP_002644.4:p.Lys290Thr