Canonical Allele Identifier: CA361028671

Gene: PITX1

Linked Data

• gnomAD v4: 5-135031409-C-T
• MyVariant Identifiers: chr5:g.134367099C>T (hg19) ; chr5:g.135031409C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031409C>T , CM000667.2:g.135031409C>T	GRCh38
NC_000005.9:g.134367099C>T , CM000667.1:g.134367099C>T	GRCh37
NC_000005.8:g.134394998C>T	NCBI36
NG_012114.1:g.7866G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.269G>A MANE Select	ENSP00000265340.6:p.Arg90Gln
ENST00000265340.11:c.269G>A	ENSP00000265340.6:p.Arg90Gln
ENST00000502676.1:c.269G>A	ENSP00000423624.1:p.Arg90Gln
ENST00000503586.1:c.391G>A
ENST00000504936.1:n.602G>A
ENST00000506438.5:c.269G>A	ENSP00000427542.1:p.Arg90Gln
ENST00000507253.5:c.269G>A	ENSP00000422908.1:p.Arg90Gln
NM_002653.4:c.269G>A	NP_002644.4:p.Arg90Gln
NM_002653.5:c.269G>A MANE Select	NP_002644.4:p.Arg90Gln