Canonical Allele Identifier: CA2768505154

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031915C>G , CM000667.2:g.135031915C>G	GRCh38
NC_000005.9:g.134367605C>G , CM000667.1:g.134367605C>G	GRCh37
NC_000005.8:g.134395504C>G	NCBI36
NG_012114.1:g.7360G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.170-407G>C MANE Select	ENSP00000265340.6:n.170-407G>C
ENST00000265340.11:c.170-407G>C	ENSP00000265340.6:n.170-407G>C
ENST00000502676.1:c.170-407G>C	ENSP00000423624.1:n.170-407G>C
ENST00000503586.1:c.292-407G>C
ENST00000504936.1:n.96G>C
ENST00000506438.5:c.170-407G>C	ENSP00000427542.1:n.170-407G>C
ENST00000507253.5:c.170-407G>C	ENSP00000422908.1:n.170-407G>C
NM_002653.4:c.170-407G>C	NP_002644.4:n.170-407G>C
NM_002653.5:c.170-407G>C MANE Select	NP_002644.4:n.170-407G>C