Canonical Allele Identifier: CA352494447

Gene: PTH1R

Linked Data

• MyVariant Identifiers: chr3:g.46939423G>T (hg19) ; chr3:g.46897933G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46897933G>T , CM000665.2:g.46897933G>T	GRCh38
NC_000003.11:g.46939423G>T , CM000665.1:g.46939423G>T	GRCh37
NC_000003.10:g.46914427G>T	NCBI36
NG_008864.1:g.25188G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449590.6:c.392G>T MANE Select	ENSP00000402723.1:p.Cys131Phe
ENST00000313049.9:c.392G>T	ENSP00000321999.4:p.Cys131Phe
ENST00000418619.5:c.392G>T	ENSP00000411424.1:p.Cys131Phe
ENST00000427125.6:c.392G>T	ENSP00000400977.2:p.Cys131Phe
ENST00000428220.1:c.392G>T	ENSP00000389811.1:p.Cys131Phe
ENST00000430002.6:c.392G>T	ENSP00000413774.2:p.Cys131Phe
ENST00000449590.5:c.392G>T	ENSP00000402723.1:p.Cys131Phe
ENST00000490109.1:n.412G>T
NM_000316.2:c.392G>T	NP_000307.1:p.Cys131Phe
NM_001184744.1:c.392G>T	NP_001171673.1:p.Cys131Phe
XM_005265344.2:c.299G>T	XP_005265401.1:p.Cys100Phe
XM_011533967.1:c.431G>T	XP_011532269.1:p.Cys144Phe
XM_011533968.1:c.413G>T	XP_011532270.1:p.Cys138Phe
XM_005265344.3:c.299G>T	XP_005265401.1:p.Cys100Phe
XM_011533967.3:c.431G>T	XP_011532269.1:p.Cys144Phe
XM_011533968.2:c.413G>T	XP_011532270.1:p.Cys138Phe
XM_017006932.2:c.431G>T	XP_016862421.1:p.Cys144Phe
XM_017006933.1:c.392G>T	XP_016862422.1:p.Cys131Phe
XM_017006934.1:c.431G>T	XP_016862423.1:p.Cys144Phe
NM_000316.3:c.392G>T MANE Select	NP_000307.1:p.Cys131Phe