Canonical Allele Identifier: CA1081832862

Gene: PITX1

Linked Data

• dbSNP Id: rs1752455955
• gnomAD v3: 5-135031775-T-A
• gnomAD v4: 5-135031775-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031775T>A , CM000667.2:g.135031775T>A	GRCh38
NC_000005.9:g.134367465T>A , CM000667.1:g.134367465T>A	GRCh37
NC_000005.8:g.134395364T>A	NCBI36
NG_012114.1:g.7500A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265340.12:c.170-267A>T MANE Select	ENSP00000265340.6:n.170-267A>T
ENST00000265340.11:c.170-267A>T	ENSP00000265340.6:n.170-267A>T
ENST00000502676.1:c.170-267A>T	ENSP00000423624.1:n.170-267A>T
ENST00000503586.1:c.292-267A>T
ENST00000504936.1:n.236A>T
ENST00000506438.5:c.170-267A>T	ENSP00000427542.1:n.170-267A>T
ENST00000507253.5:c.170-267A>T	ENSP00000422908.1:n.170-267A>T
NM_002653.4:c.170-267A>T	NP_002644.4:n.170-267A>T
NM_002653.5:c.170-267A>T MANE Select	NP_002644.4:n.170-267A>T