Canonical Allele Identifier: CA361028375
Gene: PITX1 HGNC NCBI

Linked Data

COSMIC: COSM3138342
MyVariant Identifiers: chr5:g.134366971C>T (hg19) chr5:g.135031281C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031281C>T , CM000667.2:g.135031281C>T GRCh38
NC_000005.9:g.134366971C>T , CM000667.1:g.134366971C>T GRCh37
NC_000005.8:g.134394870C>T NCBI36
NG_012114.1:g.7994G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.397G>A MANE Select ENSP00000265340.6:p.Val133Met
ENST00000265340.11:c.397G>A ENSP00000265340.6:p.Val133Met
ENST00000503586.1:c.519G>A
ENST00000504936.1:n.730G>A
ENST00000506438.5:c.397G>A ENSP00000427542.1:p.Val133Met
NM_002653.4:c.397G>A NP_002644.4:p.Val133Met
NM_002653.5:c.397G>A MANE Select NP_002644.4:p.Val133Met
Search 100 bp 5'
Search 100 bp 3'