Canonical Allele Identifier: CA3417533
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs780883053
ExAC: 5:134364554 A / C
gnomAD v2: 5-134364554-A-C
gnomAD v4: 5-135028864-A-C
MyVariant Identifiers: chr5:g.134364554A>C (hg19) chr5:g.135028864A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028864A>C , CM000667.2:g.135028864A>C GRCh38
NC_000005.9:g.134364554A>C , CM000667.1:g.134364554A>C GRCh37
NC_000005.8:g.134392453A>C NCBI36
NG_012114.1:g.10411T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.860T>G MANE Select ENSP00000265340.6:p.Leu287Arg
ENST00000265340.11:c.860T>G ENSP00000265340.6:p.Leu287Arg
ENST00000506438.5:c.860T>G ENSP00000427542.1:p.Leu287Arg
NM_002653.4:c.860T>G NP_002644.4:p.Leu287Arg
NM_002653.5:c.860T>G MANE Select NP_002644.4:p.Leu287Arg
Search 100 bp 5'
Search 100 bp 3'