Canonical Allele Identifier: CA3417525

Gene: PITX1

Linked Data

• ClinVar Variation Id: 286868
• ClinVar RCV Id: RCV000327204 ; RCV001788188 ; RCV001788189 ; RCV002059210
• dbSNP Id: rs479632
• ExAC: 5:134364518 C / G
• gnomAD v2: 5-134364518-C-G
• gnomAD v3: 5-135028828-C-G
• gnomAD v4: 5-135028828-C-G
• MyVariant Identifiers: chr5:g.134364518C>G (hg19) ; chr5:g.135028828C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028828C>G , CM000667.2:g.135028828C>G	GRCh38
NC_000005.9:g.134364518C>G , CM000667.1:g.134364518C>G	GRCh37
NC_000005.8:g.134392417C>G	NCBI36
NG_012114.1:g.10447G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265340.12:c.896G>C MANE Select	ENSP00000265340.6:p.Gly299Ala
ENST00000265340.11:c.896G>C	ENSP00000265340.6:p.Gly299Ala
ENST00000506438.5:c.896G>C	ENSP00000427542.1:p.Gly299Ala
NM_002653.4:c.896G>C	NP_002644.4:p.Gly299Ala
NM_002653.5:c.896G>C MANE Select	NP_002644.4:p.Gly299Ala