Canonical Allele Identifier: CA357984544

Gene: PITX2

Linked Data

• MyVariant Identifiers: chr4:g.111539844C>G (hg19) ; chr4:g.110618688C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618688C>G , CM000666.2:g.110618688C>G	GRCh38
NC_000004.11:g.111539844C>G , CM000666.1:g.111539844C>G	GRCh37
NC_000004.10:g.111759293C>G	NCBI36
NG_007120.1:g.23665G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185G>C	ENSP00000484763.2:p.Gly62Ala
ENST00000614423.5:c.310G>C	ENSP00000481951.2:p.Val104Leu
ENST00000616641.5:n.378G>C
ENST00000644488.2:n.382G>C
ENST00000394595.8:c.391G>C	ENSP00000378095.4:p.Val131Leu
ENST00000644488.1:n.454G>C
ENST00000644743.1:c.412G>C MANE Select	ENSP00000495061.1:p.Val138Leu
ENST00000645131.1:n.343G>C
ENST00000306732.7:c.412G>C	ENSP00000304169.3:p.Val138Leu
ENST00000354925.6:c.391G>C	ENSP00000347004.2:p.Val131Leu
ENST00000355080.9:c.253G>C	ENSP00000347192.5:p.Val85Leu
ENST00000394595.7:c.185G>C	ENSP00000378095.3:p.Gly62Ala
ENST00000394598.6:c.391G>C	ENSP00000378097.2:p.Val131Leu
ENST00000511837.5:c.391G>C	ENSP00000421454.1:p.Val131Leu
ENST00000511990.1:c.253G>C	ENSP00000424142.1:p.Val85Leu
ENST00000556049.1:n.718G>C
ENST00000607868.1:n.139G>C
ENST00000613094.4:c.391G>C	ENSP00000484763.1:p.Val131Leu
ENST00000614423.4:c.391G>C	ENSP00000481951.1:p.Val131Leu
ENST00000616641.4:c.253G>C	ENSP00000484909.1:p.Val85Leu
NM_000325.5:c.412G>C	NP_000316.2:p.Val138Leu
NM_001204397.1:c.391G>C	NP_001191326.1:p.Val131Leu
NM_001204398.1:c.391G>C	NP_001191327.1:p.Val131Leu
NM_001204399.1:c.253G>C	NP_001191328.1:p.Val85Leu
NM_153426.2:c.391G>C	NP_700475.1:p.Val131Leu
NM_153427.2:c.253G>C	NP_700476.1:p.Val85Leu
XM_006714235.2:c.391G>C	XP_006714298.1:p.Val131Leu
XM_011532027.1:c.253G>C	XP_011530329.1:p.Val85Leu
XM_024454090.1:c.58G>C	XP_024309858.1:p.Val20Leu
NM_000325.6:c.412G>C MANE Select	NP_000316.2:p.Val138Leu
NM_001204397.2:c.391G>C	NP_001191326.1:p.Val131Leu
NM_153426.3:c.391G>C	NP_700475.1:p.Val131Leu
NM_153427.3:c.253G>C	NP_700476.1:p.Val85Leu