Canonical Allele Identifier: CA446784544
Gene: PITX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.134366996C>G (hg19)
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Genomic Alleles

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

Transcript Alleles

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