Canonical Allele Identifier: CA361027723

Gene: PITX1

Linked Data

• ClinVar Variation Id: 1940061
• ClinVar RCV Id: RCV002658210 ; RCV003418574
• dbSNP Id: rs1240871076
• gnomAD v2: 5-134364728-A-G
• gnomAD v3: 5-135029038-A-G
• gnomAD v4: 5-135029038-A-G
• MyVariant Identifiers: chr5:g.134364728A>G (hg19) ; chr5:g.135029038A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135029038A>G , CM000667.2:g.135029038A>G	GRCh38
NC_000005.9:g.134364728A>G , CM000667.1:g.134364728A>G	GRCh37
NC_000005.8:g.134392627A>G	NCBI36
NG_012114.1:g.10237T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.686T>C MANE Select	ENSP00000265340.6:p.Met229Thr
ENST00000265340.11:c.686T>C	ENSP00000265340.6:p.Met229Thr
ENST00000506438.5:c.686T>C	ENSP00000427542.1:p.Met229Thr
NM_002653.4:c.686T>C	NP_002644.4:p.Met229Thr
NM_002653.5:c.686T>C MANE Select	NP_002644.4:p.Met229Thr