Canonical Allele Identifier: CA3417649
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs749085613

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031388G>T , CM000667.2:g.135031388G>T GRCh38
NC_000005.9:g.134367078G>T , CM000667.1:g.134367078G>T GRCh37
NC_000005.8:g.134394977G>T NCBI36
NG_012114.1:g.7887C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.290C>A MANE Select ENSP00000265340.6:p.Thr97Lys
ENST00000265340.11:c.290C>A ENSP00000265340.6:p.Thr97Lys
ENST00000502676.1:c.290C>A ENSP00000423624.1:p.Thr97Lys
ENST00000503586.1:c.412C>A
ENST00000504936.1:n.623C>A
ENST00000506438.5:c.290C>A ENSP00000427542.1:p.Thr97Lys
ENST00000507253.5:c.290C>A ENSP00000422908.1:p.Thr97Lys
NM_002653.4:c.290C>A NP_002644.4:p.Thr97Lys
NM_002653.5:c.290C>A MANE Select NP_002644.4:p.Thr97Lys