Canonical Allele Identifier: CA1362316843
Community Standard Title: NM_000316.3(PTH1R):c.1148G= (p.Arg383=)
Gene: PTH1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46901797G= , CM000665.2:g.46901797G= GRCh38
NC_000003.11:g.46943287G= , CM000665.1:g.46943287G= GRCh37
NC_000003.10:g.46918291G= NCBI36
NG_008864.1:g.29052G=

Transcript Alleles

HGVS Amino-acid Change
NM_000316.3:c.1148G= MANE Select NP_000307.1:p.Arg383=
ENST00000449590.6:c.1148G= MANE Select ENSP00000402723.1:p.Arg383=
NM_000316.2:c.1148G= NP_000307.1:p.Arg383=
NM_001184744.1:c.1148G= NP_001171673.1:p.Arg383=
ENST00000313049.9:c.1148G= ENSP00000321999.4:p.Arg383=
ENST00000418619.5:c.1148G= ENSP00000411424.1:p.Arg383=
ENST00000427125.6:c.1148G= ENSP00000400977.2:p.Arg383=
ENST00000428220.1:c.*85G= ENSP00000389811.1:n.*85G=
ENST00000430002.6:c.1148G= ENSP00000413774.2:p.Arg383=
ENST00000449590.5:c.1148G= ENSP00000402723.1:p.Arg383=
XM_005265344.2:c.1055G= XP_005265401.1:p.Arg352=
XM_005265344.3:c.1055G= XP_005265401.1:p.Arg352=
XM_011533967.1:c.1187G= XP_011532269.1:p.Arg396=
XM_011533967.3:c.1187G= XP_011532269.1:p.Arg396=
XM_011533968.1:c.1169G= XP_011532270.1:p.Arg390=
XM_011533968.2:c.1169G= XP_011532270.1:p.Arg390=
XM_017006932.2:c.1187G= XP_016862421.1:p.Arg396=
XM_017006933.1:c.1148G= XP_016862422.1:p.Arg383=
XM_017006934.1:c.1187G= XP_016862423.1:p.Arg396=