Canonical Allele Identifier: CA361028388

Gene: PITX1

Linked Data

• MyVariant Identifiers: chr5:g.134366979T>A (hg19) ; chr5:g.135031289T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031289T>A , CM000667.2:g.135031289T>A	GRCh38
NC_000005.9:g.134366979T>A , CM000667.1:g.134366979T>A	GRCh37
NC_000005.8:g.134394878T>A	NCBI36
NG_012114.1:g.7986A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.389A>T MANE Select	ENSP00000265340.6:p.Glu130Val
ENST00000265340.11:c.389A>T	ENSP00000265340.6:p.Glu130Val
ENST00000503586.1:c.511A>T
ENST00000504936.1:n.722A>T
ENST00000506438.5:c.389A>T	ENSP00000427542.1:p.Glu130Val
ENST00000507253.5:c.389A>T	ENSP00000422908.1:p.Glu130Val
NM_002653.4:c.389A>T	NP_002644.4:p.Glu130Val
NM_002653.5:c.389A>T MANE Select	NP_002644.4:p.Glu130Val