Canonical Allele Identifier: CA361028680

Gene: PITX1

Linked Data

• MyVariant Identifiers: chr5:g.134367103G>A (hg19) ; chr5:g.135031413G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031413G>A , CM000667.2:g.135031413G>A	GRCh38
NC_000005.9:g.134367103G>A , CM000667.1:g.134367103G>A	GRCh37
NC_000005.8:g.134395002G>A	NCBI36
NG_012114.1:g.7862C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265340.12:c.265C>T MANE Select	ENSP00000265340.6:p.Gln89Ter
ENST00000265340.11:c.265C>T	ENSP00000265340.6:p.Gln89Ter
ENST00000502676.1:c.265C>T	ENSP00000423624.1:p.Gln89Ter
ENST00000503586.1:c.387C>T
ENST00000504936.1:n.598C>T
ENST00000506438.5:c.265C>T	ENSP00000427542.1:p.Gln89Ter
ENST00000507253.5:c.265C>T	ENSP00000422908.1:p.Gln89Ter
NM_002653.4:c.265C>T	NP_002644.4:p.Gln89Ter
NM_002653.5:c.265C>T MANE Select	NP_002644.4:p.Gln89Ter