Canonical Allele Identifier: CA361027747

Gene: PITX1

Linked Data

• MyVariant Identifiers: chr5:g.134364739C>G (hg19) ; chr5:g.135029049C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135029049C>G , CM000667.2:g.135029049C>G	GRCh38
NC_000005.9:g.134364739C>G , CM000667.1:g.134364739C>G	GRCh37
NC_000005.8:g.134392638C>G	NCBI36
NG_012114.1:g.10226G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.675G>C MANE Select	ENSP00000265340.6:p.Met225Ile
ENST00000265340.11:c.675G>C	ENSP00000265340.6:p.Met225Ile
ENST00000506438.5:c.675G>C	ENSP00000427542.1:p.Met225Ile
NM_002653.4:c.675G>C	NP_002644.4:p.Met225Ile
NM_002653.5:c.675G>C MANE Select	NP_002644.4:p.Met225Ile