Canonical Allele Identifier: CA9519160

Gene: GIPR

Linked Data

• dbSNP Id: rs753048333
• ExAC: 19:46181202 C / T
• gnomAD v2: 19-46181202-C-T
• gnomAD v4: 19-45677944-C-T
• MyVariant Identifiers: chr19:g.46181202C>T (hg19) ; chr19:g.45677944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45677944C>T , CM000681.2:g.45677944C>T	GRCh38
NC_000019.9:g.46181202C>T , CM000681.1:g.46181202C>T	GRCh37
NC_000019.8:g.50873042C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000590918.6:c.963C>T MANE Select	ENSP00000467494.1:p.Leu321=
ENST00000652180.1:c.780C>T	ENSP00000498426.1:p.Leu260=
ENST00000263281.7:c.963C>T	ENSP00000263281.3:p.Leu321=
ENST00000304207.12:c.855C>T	ENSP00000305321.8:p.Leu285=
ENST00000585889.1:c.*34C>T	ENSP00000467342.1:n.*34C>T
ENST00000590918.5:c.963C>T	ENSP00000467494.1:p.Leu321=
ENST00000591224.1:n.419C>T
ENST00000593127.1:n.64C>T
NM_000164.2:c.963C>T	NP_000155.1:p.Leu321=
NM_000164.3:c.963C>T	NP_000155.1:p.Leu321=
NM_001308418.1:c.855C>T	NP_001295347.1:p.Leu285=
XM_011526709.1:c.1089C>T	XP_011525011.1:p.Leu363=
XM_011526710.1:c.1089C>T	XP_011525012.1:p.Leu363=
XM_011526711.1:c.981C>T	XP_011525013.1:p.Leu327=
XM_011526712.1:c.855C>T	XP_011525014.1:p.Leu285=
XM_011526713.1:c.840C>T	XP_011525015.1:p.Leu280=
XM_011526714.1:c.672C>T	XP_011525016.1:p.Leu224=
XM_011526715.1:c.672C>T	XP_011525017.1:p.Leu224=
XM_011526716.1:c.*47C>T	XP_011525018.1:n.*47C>T
XM_011526717.1:c.*47C>T	XP_011525019.1:n.*47C>T
XR_935791.1:n.982C>T
XM_011526709.2:c.1089C>T	XP_011525011.1:p.Leu363=
XM_011526710.2:c.1089C>T	XP_011525012.1:p.Leu363=
XM_011526711.2:c.981C>T	XP_011525013.1:p.Leu327=
XM_011526713.2:c.840C>T	XP_011525015.1:p.Leu280=
XM_011526714.2:c.672C>T	XP_011525016.1:p.Leu224=
XM_011526715.2:c.672C>T	XP_011525017.1:p.Leu224=
XM_011526716.2:c.*47C>T	XP_011525018.1:n.*47C>T
XM_017026584.1:c.618C>T	XP_016882073.1:p.Leu206=
XM_017026585.1:c.597C>T	XP_016882074.1:p.Leu199=
XM_017026586.1:c.474C>T	XP_016882075.1:p.Leu158=
XM_017026587.1:c.471C>T	XP_016882076.1:p.Leu157=
XR_001753655.1:n.1058C>T
XR_935791.2:n.988C>T
NM_000164.4:c.963C>T MANE Select	NP_000155.1:p.Leu321=
NM_001308418.2:c.855C>T	NP_001295347.1:p.Leu285=