Canonical Allele Identifier: CA357984462

Gene: PITX2

Linked Data

• MyVariant Identifiers: chr4:g.111539815C>A (hg19) ; chr4:g.110618659C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618659C>A , CM000666.2:g.110618659C>A	GRCh38
NC_000004.11:g.111539815C>A , CM000666.1:g.111539815C>A	GRCh37
NC_000004.10:g.111759264C>A	NCBI36
NG_007120.1:g.23694G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.214G>T	ENSP00000484763.2:p.Glu72Ter
ENST00000614423.5:c.339G>T	ENSP00000481951.2:p.Trp113Cys
ENST00000616641.5:n.407G>T
ENST00000644488.2:n.411G>T
ENST00000394595.8:c.420G>T	ENSP00000378095.4:p.Trp140Cys
ENST00000644488.1:n.483G>T
ENST00000644743.1:c.441G>T MANE Select	ENSP00000495061.1:p.Trp147Cys
ENST00000645131.1:n.372G>T
ENST00000306732.7:c.441G>T	ENSP00000304169.3:p.Trp147Cys
ENST00000354925.6:c.420G>T	ENSP00000347004.2:p.Trp140Cys
ENST00000355080.9:c.282G>T	ENSP00000347192.5:p.Trp94Cys
ENST00000394595.7:c.214G>T	ENSP00000378095.3:p.Glu72Ter
ENST00000394598.6:c.420G>T	ENSP00000378097.2:p.Trp140Cys
ENST00000511837.5:c.420G>T	ENSP00000421454.1:p.Trp140Cys
ENST00000511990.1:c.282G>T	ENSP00000424142.1:p.Trp94Cys
ENST00000556049.1:n.747G>T
ENST00000607868.1:n.168G>T
ENST00000613094.4:c.420G>T	ENSP00000484763.1:p.Trp140Cys
ENST00000614423.4:c.420G>T	ENSP00000481951.1:p.Trp140Cys
ENST00000616641.4:c.282G>T	ENSP00000484909.1:p.Trp94Cys
NM_000325.5:c.441G>T	NP_000316.2:p.Trp147Cys
NM_001204397.1:c.420G>T	NP_001191326.1:p.Trp140Cys
NM_001204398.1:c.420G>T	NP_001191327.1:p.Trp140Cys
NM_001204399.1:c.282G>T	NP_001191328.1:p.Trp94Cys
NM_153426.2:c.420G>T	NP_700475.1:p.Trp140Cys
NM_153427.2:c.282G>T	NP_700476.1:p.Trp94Cys
XM_006714235.2:c.420G>T	XP_006714298.1:p.Trp140Cys
XM_011532027.1:c.282G>T	XP_011530329.1:p.Trp94Cys
XM_024454090.1:c.87G>T	XP_024309858.1:p.Trp29Cys
NM_000325.6:c.441G>T MANE Select	NP_000316.2:p.Trp147Cys
NM_001204397.2:c.420G>T	NP_001191326.1:p.Trp140Cys
NM_153426.3:c.420G>T	NP_700475.1:p.Trp140Cys
NM_153427.3:c.282G>T	NP_700476.1:p.Trp94Cys