Canonical Allele Identifier: CA1584342275

Gene: PITX1

Linked Data

• dbSNP Id: rs1752454909

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031734A>G , CM000667.2:g.135031734A>G	GRCh38
NC_000005.9:g.134367424A>G , CM000667.1:g.134367424A>G	GRCh37
NC_000005.8:g.134395323A>G	NCBI36
NG_012114.1:g.7541T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.170-226T>C MANE Select	ENSP00000265340.6:n.170-226T>C
ENST00000265340.11:c.170-226T>C	ENSP00000265340.6:n.170-226T>C
ENST00000502676.1:c.170-226T>C	ENSP00000423624.1:n.170-226T>C
ENST00000503586.1:c.292-226T>C
ENST00000504936.1:n.277T>C
ENST00000506438.5:c.170-226T>C	ENSP00000427542.1:n.170-226T>C
ENST00000507253.5:c.170-226T>C	ENSP00000422908.1:n.170-226T>C
NM_002653.4:c.170-226T>C	NP_002644.4:n.170-226T>C
NM_002653.5:c.170-226T>C MANE Select	NP_002644.4:n.170-226T>C