Canonical Allele Identifier: CA361027360
Gene: PITX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028865G>C , CM000667.2:g.135028865G>C GRCh38
NC_000005.9:g.134364555G>C , CM000667.1:g.134364555G>C GRCh37
NC_000005.8:g.134392454G>C NCBI36
NG_012114.1:g.10410C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.859C>G MANE Select ENSP00000265340.6:p.Leu287Val
ENST00000265340.11:c.859C>G ENSP00000265340.6:p.Leu287Val
ENST00000506438.5:c.859C>G ENSP00000427542.1:p.Leu287Val
NM_002653.4:c.859C>G NP_002644.4:p.Leu287Val
NM_002653.5:c.859C>G MANE Select NP_002644.4:p.Leu287Val