Canonical Allele Identifier: CA352503277

Gene: PTH1R

Linked Data

• ClinVar Variation Id: 1030731
• ClinVar RCV Id: RCV001332362
• dbSNP Id: rs121434600
• MyVariant Identifiers: chr3:g.46944258T>A (hg19) ; chr3:g.46902768T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46902768T>A , CM000665.2:g.46902768T>A	GRCh38
NC_000003.11:g.46944258T>A , CM000665.1:g.46944258T>A	GRCh37
NC_000003.10:g.46919262T>A	NCBI36
NG_008864.1:g.30023T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000449590.6:c.1373T>A MANE Select	ENSP00000402723.1:p.Ile458Lys
ENST00000313049.9:c.1373T>A	ENSP00000321999.4:p.Ile458Lys
ENST00000418619.5:c.1373T>A	ENSP00000411424.1:p.Ile458Lys
ENST00000422115.2:c.89T>A	ENSP00000396176.1:p.Ile30Lys
ENST00000427125.6:c.1373T>A	ENSP00000400977.2:p.Ile458Lys
ENST00000428220.1:c.*310T>A	ENSP00000389811.1:n.*310T>A
ENST00000430002.6:c.1373T>A	ENSP00000413774.2:p.Ile458Lys
ENST00000449590.5:c.1373T>A	ENSP00000402723.1:p.Ile458Lys
NM_000316.2:c.1373T>A	NP_000307.1:p.Ile458Lys
NM_001184744.1:c.1373T>A	NP_001171673.1:p.Ile458Lys
XM_005265344.2:c.1280T>A	XP_005265401.1:p.Ile427Lys
XM_011533967.1:c.1412T>A	XP_011532269.1:p.Ile471Lys
XM_011533968.1:c.1394T>A	XP_011532270.1:p.Ile465Lys
XM_005265344.3:c.1280T>A	XP_005265401.1:p.Ile427Lys
XM_011533967.3:c.1412T>A	XP_011532269.1:p.Ile471Lys
XM_011533968.2:c.1394T>A	XP_011532270.1:p.Ile465Lys
XM_017006932.2:c.1412T>A	XP_016862421.1:p.Ile471Lys
XM_017006933.1:c.1373T>A	XP_016862422.1:p.Ile458Lys
XM_017006934.1:c.1408T>A	XP_016862423.1:p.Tyr470Asn
NM_000316.3:c.1373T>A MANE Select	NP_000307.1:p.Ile458Lys