Canonical Allele Identifier: CA2675354165

Gene: PITX1

Linked Data

• gnomAD v4: 5-135031655-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031655A>C , CM000667.2:g.135031655A>C	GRCh38
NC_000005.9:g.134367345A>C , CM000667.1:g.134367345A>C	GRCh37
NC_000005.8:g.134395244A>C	NCBI36
NG_012114.1:g.7620T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.170-147T>G MANE Select	ENSP00000265340.6:n.170-147T>G
ENST00000265340.11:c.170-147T>G	ENSP00000265340.6:n.170-147T>G
ENST00000502676.1:c.170-147T>G	ENSP00000423624.1:n.170-147T>G
ENST00000503586.1:c.292-147T>G
ENST00000504936.1:n.356T>G
ENST00000506438.5:c.170-147T>G	ENSP00000427542.1:n.170-147T>G
ENST00000507253.5:c.170-147T>G	ENSP00000422908.1:n.170-147T>G
NM_002653.4:c.170-147T>G	NP_002644.4:n.170-147T>G
NM_002653.5:c.170-147T>G MANE Select	NP_002644.4:n.170-147T>G