Canonical Allele Identifier: CA3417566
Gene: PITX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2904474
ClinVar RCV Id: RCV003729316
dbSNP Id: rs146204449
ExAC: 5:134364763 G / C
gnomAD v2: 5-134364763-G-C
gnomAD v3: 5-135029073-G-C
gnomAD v4: 5-135029073-G-C
COSMIC: COSM462077
MyVariant Identifiers: chr5:g.134364763G>C (hg19) chr5:g.135029073G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135029073G>C , CM000667.2:g.135029073G>C GRCh38
NC_000005.9:g.134364763G>C , CM000667.1:g.134364763G>C GRCh37
NC_000005.8:g.134392662G>C NCBI36
NG_012114.1:g.10202C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.651C>G MANE Select ENSP00000265340.6:p.Pro217=
ENST00000265340.11:c.651C>G ENSP00000265340.6:p.Pro217=
ENST00000506438.5:c.651C>G ENSP00000427542.1:p.Pro217=
NM_002653.4:c.651C>G NP_002644.4:p.Pro217=
NM_002653.5:c.651C>G MANE Select NP_002644.4:p.Pro217=
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