Canonical Allele Identifier: CA11472564

Gene: PTH1R

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46901538T>C , CM000665.2:g.46901538T>C	GRCh38
NC_000003.11:g.46943028T>C , CM000665.1:g.46943028T>C	GRCh37
NC_000003.10:g.46918032T>C	NCBI36
NG_008864.1:g.28793T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000316.3:c.1116+58T>C MANE Select	NP_000307.1:n.1116+58T>C
ENST00000449590.6:c.1116+58T>C MANE Select	ENSP00000402723.1:n.1116+58T>C
NM_000316.2:c.1116+58T>C	NP_000307.1:n.1116+58T>C
NM_001184744.1:c.1116+58T>C	NP_001171673.1:n.1116+58T>C
ENST00000313049.9:c.1116+58T>C	ENSP00000321999.4:n.1116+58T>C
ENST00000418619.5:c.1116+58T>C	ENSP00000411424.1:n.1116+58T>C
ENST00000427125.6:c.1116+58T>C	ENSP00000400977.2:n.1116+58T>C
ENST00000428220.1:c.*53+58T>C	ENSP00000389811.1:n.*53+58T>C
ENST00000430002.6:c.1116+58T>C	ENSP00000413774.2:n.1116+58T>C
ENST00000449590.5:c.1116+58T>C	ENSP00000402723.1:n.1116+58T>C
XM_005265344.2:c.1023+58T>C	XP_005265401.1:n.1023+58T>C
XM_005265344.3:c.1023+58T>C	XP_005265401.1:n.1023+58T>C
XM_011533967.1:c.1155+58T>C	XP_011532269.1:n.1155+58T>C
XM_011533967.3:c.1155+58T>C	XP_011532269.1:n.1155+58T>C
XM_011533968.1:c.1137+58T>C	XP_011532270.1:n.1137+58T>C
XM_011533968.2:c.1137+58T>C	XP_011532270.1:n.1137+58T>C
XM_017006932.2:c.1155+58T>C	XP_016862421.1:n.1155+58T>C
XM_017006933.1:c.1116+58T>C	XP_016862422.1:n.1116+58T>C
XM_017006934.1:c.1155+58T>C	XP_016862423.1:n.1155+58T>C