Canonical Allele Identifier: CA12064208
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs6872664

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031908C>T , CM000667.2:g.135031908C>T GRCh38
NC_000005.9:g.134367598C>T , CM000667.1:g.134367598C>T GRCh37
NC_000005.8:g.134395497C>T NCBI36
NG_012114.1:g.7367G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.170-400G>A MANE Select ENSP00000265340.6:n.170-400G>A
ENST00000265340.11:c.170-400G>A ENSP00000265340.6:n.170-400G>A
ENST00000502676.1:c.170-400G>A ENSP00000423624.1:n.170-400G>A
ENST00000503586.1:n.292-400G>A
ENST00000504936.1:n.103G>A
ENST00000506438.5:c.170-400G>A ENSP00000427542.1:n.170-400G>A
ENST00000507253.5:c.170-400G>A ENSP00000422908.1:n.170-400G>A
NM_002653.4:c.170-400G>A NP_002644.4:n.170-400G>A
NM_002653.5:c.170-400G>A MANE Select NP_002644.4:n.170-400G>A