Canonical Allele Identifier: CA1362317277

Gene: PTH1R

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000316.3:c.1373T= MANE Select	NP_000307.1:p.Ile458=
ENST00000449590.6:c.1373T= MANE Select	ENSP00000402723.1:p.Ile458=
NM_000316.2:c.1373T=	NP_000307.1:p.Ile458=
NM_001184744.1:c.1373T=	NP_001171673.1:p.Ile458=
ENST00000313049.9:c.1373T=	ENSP00000321999.4:p.Ile458=
ENST00000418619.5:c.1373T=	ENSP00000411424.1:p.Ile458=
ENST00000422115.2:c.89T=	ENSP00000396176.1:p.Ile30=
ENST00000427125.6:c.1373T=	ENSP00000400977.2:p.Ile458=
ENST00000428220.1:c.*310T=	ENSP00000389811.1:n.*310T=
ENST00000430002.6:c.1373T=	ENSP00000413774.2:p.Ile458=
ENST00000449590.5:c.1373T=	ENSP00000402723.1:p.Ile458=
XM_005265344.2:c.1280T=	XP_005265401.1:p.Ile427=
XM_005265344.3:c.1280T=	XP_005265401.1:p.Ile427=
XM_011533967.1:c.1412T=	XP_011532269.1:p.Ile471=
XM_011533967.3:c.1412T=	XP_011532269.1:p.Ile471=
XM_011533968.1:c.1394T=	XP_011532270.1:p.Ile465=
XM_011533968.2:c.1394T=	XP_011532270.1:p.Ile465=
XM_017006932.2:c.1412T=	XP_016862421.1:p.Ile471=
XM_017006933.1:c.1373T=	XP_016862422.1:p.Ile458=
XM_017006934.1:c.1408T=	XP_016862423.1:p.Tyr470=