Canonical Allele Identifier: CA9519185

Gene: GIPR

Linked Data

• dbSNP Id: rs780295269
• ExAC: 19:46181347 C / G
• gnomAD v2: 19-46181347-C-G
• gnomAD v3: 19-45678089-C-G
• gnomAD v4: 19-45678089-C-G
• MyVariant Identifiers: chr19:g.46181347C>G (hg19) ; chr19:g.45678089C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45678089C>G , CM000681.2:g.45678089C>G	GRCh38
NC_000019.9:g.46181347C>G , CM000681.1:g.46181347C>G	GRCh37
NC_000019.8:g.50873187C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000590918.6:c.1015C>G MANE Select	ENSP00000467494.1:p.Leu339Val
ENST00000652180.1:c.832C>G	ENSP00000498426.1:p.Leu278Val
ENST00000263281.7:c.1015C>G	ENSP00000263281.3:p.Leu339Val
ENST00000304207.12:c.907C>G	ENSP00000305321.8:p.Leu303Val
ENST00000585889.1:c.*86C>G	ENSP00000467342.1:n.*86C>G
ENST00000590918.5:c.1015C>G	ENSP00000467494.1:p.Leu339Val
ENST00000591224.1:n.471C>G
ENST00000593127.1:n.116C>G
NM_000164.2:c.1015C>G	NP_000155.1:p.Leu339Val
NM_000164.3:c.1015C>G	NP_000155.1:p.Leu339Val
NM_001308418.1:c.907C>G	NP_001295347.1:p.Leu303Val
XM_011526709.1:c.1141C>G	XP_011525011.1:p.Leu381Val
XM_011526710.1:c.1141C>G	XP_011525012.1:p.Leu381Val
XM_011526711.1:c.1033C>G	XP_011525013.1:p.Leu345Val
XM_011526712.1:c.907C>G	XP_011525014.1:p.Leu303Val
XM_011526713.1:c.892C>G	XP_011525015.1:p.Leu298Val
XM_011526714.1:c.724C>G	XP_011525016.1:p.Leu242Val
XM_011526715.1:c.724C>G	XP_011525017.1:p.Leu242Val
XR_935791.1:n.1034C>G
XM_011526709.2:c.1141C>G	XP_011525011.1:p.Leu381Val
XM_011526710.2:c.1141C>G	XP_011525012.1:p.Leu381Val
XM_011526711.2:c.1033C>G	XP_011525013.1:p.Leu345Val
XM_011526713.2:c.892C>G	XP_011525015.1:p.Leu298Val
XM_011526714.2:c.724C>G	XP_011525016.1:p.Leu242Val
XM_011526715.2:c.724C>G	XP_011525017.1:p.Leu242Val
XM_017026584.1:c.670C>G	XP_016882073.1:p.Leu224Val
XM_017026585.1:c.649C>G	XP_016882074.1:p.Leu217Val
XM_017026586.1:c.526C>G	XP_016882075.1:p.Leu176Val
XM_017026587.1:c.523C>G	XP_016882076.1:p.Leu175Val
XR_001753655.1:n.1110C>G
XR_935791.2:n.1040C>G
NM_000164.4:c.1015C>G MANE Select	NP_000155.1:p.Leu339Val
NM_001308418.2:c.907C>G	NP_001295347.1:p.Leu303Val