Canonical Allele Identifier: CA361028506
Gene: PITX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031339G>C , CM000667.2:g.135031339G>C GRCh38
NC_000005.9:g.134367029G>C , CM000667.1:g.134367029G>C GRCh37
NC_000005.8:g.134394928G>C NCBI36
NG_012114.1:g.7936C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.339C>G MANE Select ENSP00000265340.6:p.Tyr113Ter
ENST00000265340.11:c.339C>G ENSP00000265340.6:p.Tyr113Ter
ENST00000502676.1:c.339C>G ENSP00000423624.1:p.Tyr113Ter
ENST00000503586.1:c.461C>G
ENST00000504936.1:n.672C>G
ENST00000506438.5:c.339C>G ENSP00000427542.1:p.Tyr113Ter
ENST00000507253.5:c.339C>G ENSP00000422908.1:p.Tyr113Ter
NM_002653.4:c.339C>G NP_002644.4:p.Tyr113Ter
NM_002653.5:c.339C>G MANE Select NP_002644.4:p.Tyr113Ter