Canonical Allele Identifier: CA2514993270

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031008G>A , CM000667.2:g.135031008G>A	GRCh38
NC_000005.9:g.134366698G>A , CM000667.1:g.134366698G>A	GRCh37
NC_000005.8:g.134394597G>A	NCBI36
NG_012114.1:g.8267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.402+268C>T MANE Select	ENSP00000265340.6:n.402+268C>T
ENST00000265340.11:c.402+268C>T	ENSP00000265340.6:n.402+268C>T
ENST00000503586.1:c.524+268C>T
ENST00000504936.1:n.735+268C>T
ENST00000506438.5:c.402+268C>T	ENSP00000427542.1:n.402+268C>T
NM_002653.4:c.402+268C>T	NP_002644.4:n.402+268C>T
NM_002653.5:c.402+268C>T MANE Select	NP_002644.4:n.402+268C>T