Canonical Allele Identifier: CA2359432

Gene: PTH1R

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46901831C>T , CM000665.2:g.46901831C>T	GRCh38
NC_000003.11:g.46943321C>T , CM000665.1:g.46943321C>T	GRCh37
NC_000003.10:g.46918325C>T	NCBI36
NG_008864.1:g.29086C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000316.3:c.1182C>T MANE Select	NP_000307.1:p.Ala394=
ENST00000449590.6:c.1182C>T MANE Select	ENSP00000402723.1:p.Ala394=
NM_000316.2:c.1182C>T	NP_000307.1:p.Ala394=
NM_001184744.1:c.1182C>T	NP_001171673.1:p.Ala394=
ENST00000313049.9:c.1182C>T	ENSP00000321999.4:p.Ala394=
ENST00000418619.5:c.1182C>T	ENSP00000411424.1:p.Ala394=
ENST00000427125.6:c.1182C>T	ENSP00000400977.2:p.Ala394=
ENST00000428220.1:c.*119C>T	ENSP00000389811.1:n.*119C>T
ENST00000430002.6:c.1182C>T	ENSP00000413774.2:p.Ala394=
ENST00000449590.5:c.1182C>T	ENSP00000402723.1:p.Ala394=
XM_005265344.2:c.1089C>T	XP_005265401.1:p.Ala363=
XM_005265344.3:c.1089C>T	XP_005265401.1:p.Ala363=
XM_011533967.1:c.1221C>T	XP_011532269.1:p.Ala407=
XM_011533967.3:c.1221C>T	XP_011532269.1:p.Ala407=
XM_011533968.1:c.1203C>T	XP_011532270.1:p.Ala401=
XM_011533968.2:c.1203C>T	XP_011532270.1:p.Ala401=
XM_017006932.2:c.1221C>T	XP_016862421.1:p.Ala407=
XM_017006933.1:c.1182C>T	XP_016862422.1:p.Ala394=
XM_017006934.1:c.1221C>T	XP_016862423.1:p.Ala407=