Canonical Allele Identifier: CA3417652
Gene: PITX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285947
ClinVar RCV Id: RCV000319849 RCV003947910
dbSNP Id: rs200888898
ExAC: 5:134367106 T / G
gnomAD v2: 5-134367106-T-G
gnomAD v3: 5-135031416-T-G
gnomAD v4: 5-135031416-T-G
MyVariant Identifiers: chr5:g.134367106T>G (hg19) chr5:g.135031416T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031416T>G , CM000667.2:g.135031416T>G GRCh38
NC_000005.9:g.134367106T>G , CM000667.1:g.134367106T>G GRCh37
NC_000005.8:g.134395005T>G NCBI36
NG_012114.1:g.7859A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.262A>C MANE Select ENSP00000265340.6:p.Lys88Gln
ENST00000265340.11:c.262A>C ENSP00000265340.6:p.Lys88Gln
ENST00000502676.1:c.262A>C ENSP00000423624.1:p.Lys88Gln
ENST00000503586.1:c.384A>C
ENST00000504936.1:n.595A>C
ENST00000506438.5:c.262A>C ENSP00000427542.1:p.Lys88Gln
ENST00000507253.5:c.262A>C ENSP00000422908.1:p.Lys88Gln
NM_002653.4:c.262A>C NP_002644.4:p.Lys88Gln
NM_002653.5:c.262A>C MANE Select NP_002644.4:p.Lys88Gln
Search 100 bp 5'
Search 100 bp 3'