Canonical Allele Identifier: CA361028700

Gene: PITX1

Linked Data

• dbSNP Id: rs1246339922
• MyVariant Identifiers: chr5:g.134367111T>G (hg19) ; chr5:g.135031421T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031421T>G , CM000667.2:g.135031421T>G	GRCh38
NC_000005.9:g.134367111T>G , CM000667.1:g.134367111T>G	GRCh37
NC_000005.8:g.134395010T>G	NCBI36
NG_012114.1:g.7854A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265340.12:c.257A>C MANE Select	ENSP00000265340.6:p.Lys86Thr
ENST00000265340.11:c.257A>C	ENSP00000265340.6:p.Lys86Thr
ENST00000502676.1:c.257A>C	ENSP00000423624.1:p.Lys86Thr
ENST00000503586.1:c.379A>C
ENST00000504936.1:n.590A>C
ENST00000506438.5:c.257A>C	ENSP00000427542.1:p.Lys86Thr
ENST00000507253.5:c.257A>C	ENSP00000422908.1:p.Lys86Thr
NM_002653.4:c.257A>C	NP_002644.4:p.Lys86Thr
NM_002653.5:c.257A>C MANE Select	NP_002644.4:p.Lys86Thr