Canonical Allele Identifier: CA1362317184
Community Standard Title: NM_000316.3(PTH1R):c.1229C= (p.Thr410=)
Gene: PTH1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46902543C= , CM000665.2:g.46902543C= GRCh38
NC_000003.11:g.46944033C= , CM000665.1:g.46944033C= GRCh37
NC_000003.10:g.46919037C= NCBI36
NG_008864.1:g.29798C=

Transcript Alleles

HGVS Amino-acid Change
NM_000316.3:c.1229C= MANE Select NP_000307.1:p.Thr410=
ENST00000449590.6:c.1229C= MANE Select ENSP00000402723.1:p.Thr410=
NM_000316.2:c.1229C= NP_000307.1:p.Thr410=
NM_001184744.1:c.1229C= NP_001171673.1:p.Thr410=
ENST00000313049.9:c.1229C= ENSP00000321999.4:p.Thr410=
ENST00000418619.5:c.1229C= ENSP00000411424.1:p.Thr410=
ENST00000427125.6:c.1229C= ENSP00000400977.2:p.Thr410=
ENST00000428220.1:c.*166C= ENSP00000389811.1:n.*166C=
ENST00000430002.6:c.1229C= ENSP00000413774.2:p.Thr410=
ENST00000449590.5:c.1229C= ENSP00000402723.1:p.Thr410=
XM_005265344.2:c.1136C= XP_005265401.1:p.Thr379=
XM_005265344.3:c.1136C= XP_005265401.1:p.Thr379=
XM_011533967.1:c.1268C= XP_011532269.1:p.Thr423=
XM_011533967.3:c.1268C= XP_011532269.1:p.Thr423=
XM_011533968.1:c.1250C= XP_011532270.1:p.Thr417=
XM_011533968.2:c.1250C= XP_011532270.1:p.Thr417=
XM_017006932.2:c.1268C= XP_016862421.1:p.Thr423=
XM_017006933.1:c.1229C= XP_016862422.1:p.Thr410=
XM_017006934.1:c.1264C= XP_016862423.1:p.Arg422=