Canonical Allele Identifier: CA361028552

Gene: PITX1

Linked Data

• dbSNP Id: rs1312538588
• gnomAD v2: 5-134367048-G-A
• gnomAD v4: 5-135031358-G-A
• MyVariant Identifiers: chr5:g.134367048G>A (hg19) ; chr5:g.135031358G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031358G>A , CM000667.2:g.135031358G>A	GRCh38
NC_000005.9:g.134367048G>A , CM000667.1:g.134367048G>A	GRCh37
NC_000005.8:g.134394947G>A	NCBI36
NG_012114.1:g.7917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.320C>T MANE Select	ENSP00000265340.6:p.Thr107Met
ENST00000265340.11:c.320C>T	ENSP00000265340.6:p.Thr107Met
ENST00000502676.1:c.320C>T	ENSP00000423624.1:p.Thr107Met
ENST00000503586.1:c.442C>T
ENST00000504936.1:n.653C>T
ENST00000506438.5:c.320C>T	ENSP00000427542.1:p.Thr107Met
ENST00000507253.5:c.320C>T	ENSP00000422908.1:p.Thr107Met
NM_002653.4:c.320C>T	NP_002644.4:p.Thr107Met
NM_002653.5:c.320C>T MANE Select	NP_002644.4:p.Thr107Met