Canonical Allele Identifier: CA3417644
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs757467616
ExAC: 5:134367026 G / C
gnomAD v2: 5-134367026-G-C
gnomAD v4: 5-135031336-G-C
MyVariant Identifiers: chr5:g.134367026G>C (hg19) chr5:g.135031336G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031336G>C , CM000667.2:g.135031336G>C GRCh38
NC_000005.9:g.134367026G>C , CM000667.1:g.134367026G>C GRCh37
NC_000005.8:g.134394925G>C NCBI36
NG_012114.1:g.7939C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.342C>G MANE Select ENSP00000265340.6:p.Pro114=
ENST00000265340.11:c.342C>G ENSP00000265340.6:p.Pro114=
ENST00000502676.1:c.342C>G ENSP00000423624.1:p.Pro114=
ENST00000503586.1:c.464C>G
ENST00000504936.1:n.675C>G
ENST00000506438.5:c.342C>G ENSP00000427542.1:p.Pro114=
ENST00000507253.5:c.342C>G ENSP00000422908.1:p.Pro114=
NM_002653.4:c.342C>G NP_002644.4:p.Pro114=
NM_002653.5:c.342C>G MANE Select NP_002644.4:p.Pro114=
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