Canonical Allele Identifier: CA361027275
Gene: PITX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2842174
ClinVar RCV Id: RCV003721341
MyVariant Identifiers: chr5:g.134364515A>C (hg19) chr5:g.135028825A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028825A>C , CM000667.2:g.135028825A>C GRCh38
NC_000005.9:g.134364515A>C , CM000667.1:g.134364515A>C GRCh37
NC_000005.8:g.134392414A>C NCBI36
NG_012114.1:g.10450T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.899T>G MANE Select ENSP00000265340.6:p.Leu300Arg
ENST00000265340.11:c.899T>G ENSP00000265340.6:p.Leu300Arg
ENST00000506438.5:c.899T>G ENSP00000427542.1:p.Leu300Arg
NM_002653.4:c.899T>G NP_002644.4:p.Leu300Arg
NM_002653.5:c.899T>G MANE Select NP_002644.4:p.Leu300Arg
Search 100 bp 5'
Search 100 bp 3'