Canonical Allele Identifier: CA9519161

Gene: GIPR

Linked Data

• dbSNP Id: rs756542079
• ExAC: 19:46181206 T / G
• gnomAD v2: 19-46181206-T-G
• gnomAD v4: 19-45677948-T-G
• MyVariant Identifiers: chr19:g.46181206T>G (hg19) ; chr19:g.45677948T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45677948T>G , CM000681.2:g.45677948T>G	GRCh38
NC_000019.9:g.46181206T>G , CM000681.1:g.46181206T>G	GRCh37
NC_000019.8:g.50873046T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000590918.6:c.967T>G MANE Select	ENSP00000467494.1:p.Ser323Ala
ENST00000652180.1:c.784T>G	ENSP00000498426.1:p.Ser262Ala
ENST00000263281.7:c.967T>G	ENSP00000263281.3:p.Ser323Ala
ENST00000304207.12:c.859T>G	ENSP00000305321.8:p.Ser287Ala
ENST00000585889.1:c.*38T>G	ENSP00000467342.1:n.*38T>G
ENST00000590918.5:c.967T>G	ENSP00000467494.1:p.Ser323Ala
ENST00000591224.1:n.423T>G
ENST00000593127.1:n.68T>G
NM_000164.2:c.967T>G	NP_000155.1:p.Ser323Ala
NM_000164.3:c.967T>G	NP_000155.1:p.Ser323Ala
NM_001308418.1:c.859T>G	NP_001295347.1:p.Ser287Ala
XM_011526709.1:c.1093T>G	XP_011525011.1:p.Ser365Ala
XM_011526710.1:c.1093T>G	XP_011525012.1:p.Ser365Ala
XM_011526711.1:c.985T>G	XP_011525013.1:p.Ser329Ala
XM_011526712.1:c.859T>G	XP_011525014.1:p.Ser287Ala
XM_011526713.1:c.844T>G	XP_011525015.1:p.Ser282Ala
XM_011526714.1:c.676T>G	XP_011525016.1:p.Ser226Ala
XM_011526715.1:c.676T>G	XP_011525017.1:p.Ser226Ala
XM_011526716.1:c.*51T>G	XP_011525018.1:n.*51T>G
XM_011526717.1:c.*51T>G	XP_011525019.1:n.*51T>G
XR_935791.1:n.986T>G
XM_011526709.2:c.1093T>G	XP_011525011.1:p.Ser365Ala
XM_011526710.2:c.1093T>G	XP_011525012.1:p.Ser365Ala
XM_011526711.2:c.985T>G	XP_011525013.1:p.Ser329Ala
XM_011526713.2:c.844T>G	XP_011525015.1:p.Ser282Ala
XM_011526714.2:c.676T>G	XP_011525016.1:p.Ser226Ala
XM_011526715.2:c.676T>G	XP_011525017.1:p.Ser226Ala
XM_011526716.2:c.*51T>G	XP_011525018.1:n.*51T>G
XM_017026584.1:c.622T>G	XP_016882073.1:p.Ser208Ala
XM_017026585.1:c.601T>G	XP_016882074.1:p.Ser201Ala
XM_017026586.1:c.478T>G	XP_016882075.1:p.Ser160Ala
XM_017026587.1:c.475T>G	XP_016882076.1:p.Ser159Ala
XR_001753655.1:n.1062T>G
XR_935791.2:n.992T>G
NM_000164.4:c.967T>G MANE Select	NP_000155.1:p.Ser323Ala
NM_001308418.2:c.859T>G	NP_001295347.1:p.Ser287Ala