Canonical Allele Identifier: CA361027721

Gene: PITX1

Linked Data

• MyVariant Identifiers: chr5:g.134364727C>G (hg19) ; chr5:g.135029037C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135029037C>G , CM000667.2:g.135029037C>G	GRCh38
NC_000005.9:g.134364727C>G , CM000667.1:g.134364727C>G	GRCh37
NC_000005.8:g.134392626C>G	NCBI36
NG_012114.1:g.10238G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.687G>C MANE Select	ENSP00000265340.6:p.Met229Ile
ENST00000265340.11:c.687G>C	ENSP00000265340.6:p.Met229Ile
ENST00000506438.5:c.687G>C	ENSP00000427542.1:p.Met229Ile
NM_002653.4:c.687G>C	NP_002644.4:p.Met229Ile
NM_002653.5:c.687G>C MANE Select	NP_002644.4:p.Met229Ile