Canonical Allele Identifier: CA446784590

Gene: PITX1

Linked Data

• MyVariant Identifiers: chr5:g.134367086C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031396C>G , CM000667.2:g.135031396C>G	GRCh38
NC_000005.9:g.134367086C>G , CM000667.1:g.134367086C>G	GRCh37
NC_000005.8:g.134394985C>G	NCBI36
NG_012114.1:g.7879G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.282G>C MANE Select	ENSP00000265340.6:p.Thr94=
ENST00000265340.11:c.282G>C	ENSP00000265340.6:p.Thr94=
ENST00000502676.1:c.282G>C	ENSP00000423624.1:p.Thr94=
ENST00000503586.1:c.404G>C
ENST00000504936.1:n.615G>C
ENST00000506438.5:c.282G>C	ENSP00000427542.1:p.Thr94=
ENST00000507253.5:c.282G>C	ENSP00000422908.1:p.Thr94=
NM_002653.4:c.282G>C	NP_002644.4:p.Thr94=
NM_002653.5:c.282G>C MANE Select	NP_002644.4:p.Thr94=