Canonical Allele Identifier: CA128011531

Gene: PITX1

Linked Data

• dbSNP Id: rs1046189851
• gnomAD v2: 5-134367388-G-T
• gnomAD v3: 5-135031698-G-T
• gnomAD v4: 5-135031698-G-T
• MyVariant Identifiers: chr5:g.134367388G>T (hg19) ; chr5:g.135031698G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031698G>T , CM000667.2:g.135031698G>T	GRCh38
NC_000005.9:g.134367388G>T , CM000667.1:g.134367388G>T	GRCh37
NC_000005.8:g.134395287G>T	NCBI36
NG_012114.1:g.7577C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.170-190C>A MANE Select	ENSP00000265340.6:n.170-190C>A
ENST00000265340.11:c.170-190C>A	ENSP00000265340.6:n.170-190C>A
ENST00000502676.1:c.170-190C>A	ENSP00000423624.1:n.170-190C>A
ENST00000503586.1:c.292-190C>A
ENST00000504936.1:n.313C>A
ENST00000506438.5:c.170-190C>A	ENSP00000427542.1:n.170-190C>A
ENST00000507253.5:c.170-190C>A	ENSP00000422908.1:n.170-190C>A
NM_002653.4:c.170-190C>A	NP_002644.4:n.170-190C>A
NM_002653.5:c.170-190C>A MANE Select	NP_002644.4:n.170-190C>A