Canonical Allele Identifier: CA361027398

Gene: PITX1

Linked Data

• MyVariant Identifiers: chr5:g.134364575G>A (hg19) ; chr5:g.135028885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028885G>A , CM000667.2:g.135028885G>A	GRCh38
NC_000005.9:g.134364575G>A , CM000667.1:g.134364575G>A	GRCh37
NC_000005.8:g.134392474G>A	NCBI36
NG_012114.1:g.10390C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.839C>T MANE Select	ENSP00000265340.6:p.Ser280Leu
ENST00000265340.11:c.839C>T	ENSP00000265340.6:p.Ser280Leu
ENST00000506438.5:c.839C>T	ENSP00000427542.1:p.Ser280Leu
NM_002653.4:c.839C>T	NP_002644.4:p.Ser280Leu
NM_002653.5:c.839C>T MANE Select	NP_002644.4:p.Ser280Leu