Canonical Allele Identifier: CA917587370

Gene: PITX1

Linked Data

• dbSNP Id: rs1561470270
• gnomAD v3: 5-135028476-A-ACC
• gnomAD v4: 5-135028476-A-ACC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028477_135028478dup , CM000667.2:g.135028477_135028478dup	GRCh38
NC_000005.9:g.134364167_134364168dup , CM000667.1:g.134364167_134364168dup	GRCh37
NC_000005.8:g.134392066_134392067dup	NCBI36
NG_012114.1:g.10797_10798dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*301_*302dup MANE Select	ENSP00000265340.6:n.*301_*302dup
ENST00000265340.11:c.*301_*302dup	ENSP00000265340.6:n.*301_*302dup
NM_002653.4:c.*301_*302dup	NP_002644.4:n.*301_*302dup
NM_002653.5:c.*301_*302dup MANE Select	NP_002644.4:n.*301_*302dup