Canonical Allele Identifier: CA361028483
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1422587604
gnomAD v2: 5-134367020-C-A
gnomAD v4: 5-135031330-C-A
MyVariant Identifiers: chr5:g.134367020C>A (hg19) chr5:g.135031330C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031330C>A , CM000667.2:g.135031330C>A GRCh38
NC_000005.9:g.134367020C>A , CM000667.1:g.134367020C>A GRCh37
NC_000005.8:g.134394919C>A NCBI36
NG_012114.1:g.7945G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.348G>T MANE Select ENSP00000265340.6:p.Met116Ile
ENST00000265340.11:c.348G>T ENSP00000265340.6:p.Met116Ile
ENST00000503586.1:c.470G>T
ENST00000504936.1:n.681G>T
ENST00000506438.5:c.348G>T ENSP00000427542.1:p.Met116Ile
ENST00000507253.5:c.348G>T ENSP00000422908.1:p.Met116Ile
NM_002653.4:c.348G>T NP_002644.4:p.Met116Ile
NM_002653.5:c.348G>T MANE Select NP_002644.4:p.Met116Ile
Search 100 bp 5'
Search 100 bp 3'