Canonical Allele Identifier: CA361028520

Gene: PITX1

Linked Data

• dbSNP Id: rs1404510232
• gnomAD v2: 5-134367034-G-C
• gnomAD v4: 5-135031344-G-C
• MyVariant Identifiers: chr5:g.134367034G>C (hg19) ; chr5:g.135031344G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031344G>C , CM000667.2:g.135031344G>C	GRCh38
NC_000005.9:g.134367034G>C , CM000667.1:g.134367034G>C	GRCh37
NC_000005.8:g.134394933G>C	NCBI36
NG_012114.1:g.7931C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.334C>G MANE Select	ENSP00000265340.6:p.Arg112Gly
ENST00000265340.11:c.334C>G	ENSP00000265340.6:p.Arg112Gly
ENST00000502676.1:c.334C>G	ENSP00000423624.1:p.Arg112Gly
ENST00000503586.1:c.456C>G
ENST00000504936.1:n.667C>G
ENST00000506438.5:c.334C>G	ENSP00000427542.1:p.Arg112Gly
ENST00000507253.5:c.334C>G	ENSP00000422908.1:p.Arg112Gly
NM_002653.4:c.334C>G	NP_002644.4:p.Arg112Gly
NM_002653.5:c.334C>G MANE Select	NP_002644.4:p.Arg112Gly