Canonical Allele Identifier: CA446784545
Gene: PITX1 HGNC NCBI

Linked Data

COSMIC: COSM302924
MyVariant Identifiers: chr5:g.134366996C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031306C>T , CM000667.2:g.135031306C>T GRCh38
NC_000005.9:g.134366996C>T , CM000667.1:g.134366996C>T GRCh37
NC_000005.8:g.134394895C>T NCBI36
NG_012114.1:g.7969G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.372G>A MANE Select ENSP00000265340.6:p.Val124=
ENST00000265340.11:c.372G>A ENSP00000265340.6:p.Val124=
ENST00000503586.1:c.494G>A
ENST00000504936.1:n.705G>A
ENST00000506438.5:c.372G>A ENSP00000427542.1:p.Val124=
ENST00000507253.5:c.372G>A ENSP00000422908.1:p.Val124=
NM_002653.4:c.372G>A NP_002644.4:p.Val124=
NM_002653.5:c.372G>A MANE Select NP_002644.4:p.Val124=
Search 100 bp 5'
Search 100 bp 3'