Canonical Allele Identifier: CA804235665

Gene: PITX1

Linked Data

• dbSNP Id: rs1372614572
• gnomAD v3: 5-135031858-G-A
• gnomAD v4: 5-135031858-G-A
• MyVariant Identifiers: chr5:g.134367548G>A (hg19) ; chr5:g.135031858G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031858G>A , CM000667.2:g.135031858G>A	GRCh38
NC_000005.9:g.134367548G>A , CM000667.1:g.134367548G>A	GRCh37
NC_000005.8:g.134395447G>A	NCBI36
NG_012114.1:g.7417C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265340.12:c.170-350C>T MANE Select	ENSP00000265340.6:n.170-350C>T
ENST00000265340.11:c.170-350C>T	ENSP00000265340.6:n.170-350C>T
ENST00000502676.1:c.170-350C>T	ENSP00000423624.1:n.170-350C>T
ENST00000503586.1:c.292-350C>T
ENST00000504936.1:n.153C>T
ENST00000506438.5:c.170-350C>T	ENSP00000427542.1:n.170-350C>T
ENST00000507253.5:c.170-350C>T	ENSP00000422908.1:n.170-350C>T
NM_002653.4:c.170-350C>T	NP_002644.4:n.170-350C>T
NM_002653.5:c.170-350C>T MANE Select	NP_002644.4:n.170-350C>T