Canonical Allele Identifier: CA2359423

Gene: PTH1R

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46901793G>A , CM000665.2:g.46901793G>A	GRCh38
NC_000003.11:g.46943283G>A , CM000665.1:g.46943283G>A	GRCh37
NC_000003.10:g.46918287G>A	NCBI36
NG_008864.1:g.29048G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000316.3:c.1144G>A MANE Select	NP_000307.1:p.Val382Ile
ENST00000449590.6:c.1144G>A MANE Select	ENSP00000402723.1:p.Val382Ile
NM_000316.2:c.1144G>A	NP_000307.1:p.Val382Ile
NM_001184744.1:c.1144G>A	NP_001171673.1:p.Val382Ile
ENST00000313049.9:c.1144G>A	ENSP00000321999.4:p.Val382Ile
ENST00000418619.5:c.1144G>A	ENSP00000411424.1:p.Val382Ile
ENST00000427125.6:c.1144G>A	ENSP00000400977.2:p.Val382Ile
ENST00000428220.1:c.*81G>A	ENSP00000389811.1:n.*81G>A
ENST00000430002.6:c.1144G>A	ENSP00000413774.2:p.Val382Ile
ENST00000449590.5:c.1144G>A	ENSP00000402723.1:p.Val382Ile
XM_005265344.2:c.1051G>A	XP_005265401.1:p.Val351Ile
XM_005265344.3:c.1051G>A	XP_005265401.1:p.Val351Ile
XM_011533967.1:c.1183G>A	XP_011532269.1:p.Val395Ile
XM_011533967.3:c.1183G>A	XP_011532269.1:p.Val395Ile
XM_011533968.1:c.1165G>A	XP_011532270.1:p.Val389Ile
XM_011533968.2:c.1165G>A	XP_011532270.1:p.Val389Ile
XM_017006932.2:c.1183G>A	XP_016862421.1:p.Val395Ile
XM_017006933.1:c.1144G>A	XP_016862422.1:p.Val382Ile
XM_017006934.1:c.1183G>A	XP_016862423.1:p.Val395Ile