Canonical Allele Identifier: CA563059435

Gene: PITX1

Linked Data

• dbSNP Id: rs1174943925
• gnomAD v2: 5-134364467-G-T
• gnomAD v3: 5-135028777-G-T
• gnomAD v4: 5-135028777-G-T
• MyVariant Identifiers: chr5:g.134364467G>T (hg19) ; chr5:g.135028777G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028777G>T , CM000667.2:g.135028777G>T	GRCh38
NC_000005.9:g.134364467G>T , CM000667.1:g.134364467G>T	GRCh37
NC_000005.8:g.134392366G>T	NCBI36
NG_012114.1:g.10498C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*2C>A MANE Select	ENSP00000265340.6:n.*2C>A
ENST00000265340.11:c.*2C>A	ENSP00000265340.6:n.*2C>A
ENST00000506438.5:c.*2C>A	ENSP00000427542.1:n.*2C>A
NM_002653.4:c.*2C>A	NP_002644.4:n.*2C>A
NM_002653.5:c.*2C>A MANE Select	NP_002644.4:n.*2C>A