Canonical Allele Identifier: CA361027642

Gene: PITX1

Linked Data

• MyVariant Identifiers: chr5:g.134364689A>T (hg19) ; chr5:g.135028999A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028999A>T , CM000667.2:g.135028999A>T	GRCh38
NC_000005.9:g.134364689A>T , CM000667.1:g.134364689A>T	GRCh37
NC_000005.8:g.134392588A>T	NCBI36
NG_012114.1:g.10276T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.725T>A MANE Select	ENSP00000265340.6:p.Leu242His
ENST00000265340.11:c.725T>A	ENSP00000265340.6:p.Leu242His
ENST00000506438.5:c.725T>A	ENSP00000427542.1:p.Leu242His
NM_002653.4:c.725T>A	NP_002644.4:p.Leu242His
NM_002653.5:c.725T>A MANE Select	NP_002644.4:p.Leu242His