Canonical Allele Identifier: CA2359596

Gene: PTH1R

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46903519G>A , CM000665.2:g.46903519G>A	GRCh38
NC_000003.11:g.46945009G>A , CM000665.1:g.46945009G>A	GRCh37
NC_000003.10:g.46920013G>A	NCBI36
NG_008864.1:g.30774G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000316.3:c.1645G>A MANE Select	NP_000307.1:p.Glu549Lys
ENST00000449590.6:c.1645G>A MANE Select	ENSP00000402723.1:p.Glu549Lys
NM_000316.2:c.1645G>A	NP_000307.1:p.Glu549Lys
NM_001184744.1:c.1645G>A	NP_001171673.1:p.Glu549Lys
ENST00000313049.9:c.1645G>A	ENSP00000321999.4:p.Glu549Lys
ENST00000418619.5:c.1645G>A	ENSP00000411424.1:p.Glu549Lys
ENST00000422115.2:c.412G>A	ENSP00000396176.1:p.Glu138Lys
ENST00000428220.1:c.*582G>A	ENSP00000389811.1:n.*582G>A
ENST00000430002.6:c.1645G>A	ENSP00000413774.2:p.Glu549Lys
ENST00000449590.5:c.1645G>A	ENSP00000402723.1:p.Glu549Lys
XM_005265344.2:c.1552G>A	XP_005265401.1:p.Glu518Lys
XM_005265344.3:c.1552G>A	XP_005265401.1:p.Glu518Lys
XM_011533967.1:c.1684G>A	XP_011532269.1:p.Glu562Lys
XM_011533967.3:c.1684G>A	XP_011532269.1:p.Glu562Lys
XM_011533968.1:c.1666G>A	XP_011532270.1:p.Glu556Lys
XM_011533968.2:c.1666G>A	XP_011532270.1:p.Glu556Lys
XM_017006932.2:c.1684G>A	XP_016862421.1:p.Glu562Lys
XM_017006933.1:c.1645G>A	XP_016862422.1:p.Glu549Lys
XM_017006934.1:c.*129G>A	XP_016862423.1:n.*129G>A