Canonical Allele Identifier: CA804235599

Gene: PITX1

Linked Data

• dbSNP Id: rs1282661476
• gnomAD v3: 5-135031715-G-C
• gnomAD v4: 5-135031715-G-C
• MyVariant Identifiers: chr5:g.134367405G>C (hg19) ; chr5:g.135031715G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031715G>C , CM000667.2:g.135031715G>C	GRCh38
NC_000005.9:g.134367405G>C , CM000667.1:g.134367405G>C	GRCh37
NC_000005.8:g.134395304G>C	NCBI36
NG_012114.1:g.7560C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.170-207C>G MANE Select	ENSP00000265340.6:n.170-207C>G
ENST00000265340.11:c.170-207C>G	ENSP00000265340.6:n.170-207C>G
ENST00000502676.1:c.170-207C>G	ENSP00000423624.1:n.170-207C>G
ENST00000503586.1:c.292-207C>G
ENST00000504936.1:n.296C>G
ENST00000506438.5:c.170-207C>G	ENSP00000427542.1:n.170-207C>G
ENST00000507253.5:c.170-207C>G	ENSP00000422908.1:n.170-207C>G
NM_002653.4:c.170-207C>G	NP_002644.4:n.170-207C>G
NM_002653.5:c.170-207C>G MANE Select	NP_002644.4:n.170-207C>G