Canonical Allele Identifier: CA446784558

Gene: PITX1

Linked Data

• dbSNP Id: rs757467616
• gnomAD v2: 5-134367026-G-T
• gnomAD v4: 5-135031336-G-T
• MyVariant Identifiers: chr5:g.134367026G>T (hg19) ; chr5:g.135031336G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031336G>T , CM000667.2:g.135031336G>T	GRCh38
NC_000005.9:g.134367026G>T , CM000667.1:g.134367026G>T	GRCh37
NC_000005.8:g.134394925G>T	NCBI36
NG_012114.1:g.7939C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.342C>A MANE Select	ENSP00000265340.6:p.Pro114=
ENST00000265340.11:c.342C>A	ENSP00000265340.6:p.Pro114=
ENST00000502676.1:c.342C>A	ENSP00000423624.1:p.Pro114=
ENST00000503586.1:c.464C>A
ENST00000504936.1:n.675C>A
ENST00000506438.5:c.342C>A	ENSP00000427542.1:p.Pro114=
ENST00000507253.5:c.342C>A	ENSP00000422908.1:p.Pro114=
NM_002653.4:c.342C>A	NP_002644.4:p.Pro114=
NM_002653.5:c.342C>A MANE Select	NP_002644.4:p.Pro114=