Canonical Allele Identifier: CA10633500

Gene: GRIP1

Linked Data

• ClinVar Variation Id: 310303
• ClinVar RCV Id: RCV000380986 ; RCV003678986
• dbSNP Id: rs886049797
• MyVariant Identifiers: chr12:g.66786191C>T (hg19) ; chr12:g.66392411C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.66392411C>T , CM000674.2:g.66392411C>T	GRCh38
NC_000012.11:g.66786191C>T , CM000674.1:g.66786191C>T	GRCh37
NC_000012.10:g.65072458C>T	NCBI36
NG_021400.1:g.291735G>A
NG_021400.2:g.681855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696989.1:c.2430G>A	ENSP00000513025.1:p.Lys810=
ENST00000359742.9:c.2361G>A MANE Select	ENSP00000352780.4:p.Lys787=
ENST00000359742.8:c.2361G>A	ENSP00000352780.4:p.Lys787=
ENST00000398016.7:c.2205G>A	ENSP00000381098.3:p.Lys735=
ENST00000536215.5:c.1881G>A	ENSP00000446011.1:p.Lys627=
ENST00000538164.5:c.1805G>A
ENST00000538211.5:c.2205G>A	ENSP00000446047.1:p.Lys735=
ENST00000540433.5:c.2037G>A	ENSP00000446024.1:p.Lys679=
ENST00000540854.5:c.338-43165G>A	ENSP00000443006.1:n.338-43165G>A
ENST00000541299.1:n.122G>A
NM_001178074.1:c.2205G>A	NP_001171545.1:p.Lys735=
NM_021150.3:c.2205G>A	NP_066973.2:p.Lys735=
XM_005268754.3:c.2364G>A	XP_005268811.1:p.Lys788=
XM_005268757.3:c.2283G>A	XP_005268814.1:p.Lys761=
XM_011538089.1:c.2586G>A	XP_011536391.1:p.Lys862=
XM_011538090.1:c.2586G>A	XP_011536392.1:p.Lys862=
XM_011538091.1:c.2430G>A	XP_011536393.1:p.Lys810=
XM_011538092.1:c.2430G>A	XP_011536394.1:p.Lys810=
XM_011538093.1:c.2361G>A	XP_011536395.1:p.Lys787=
XM_011538094.1:c.2193G>A	XP_011536396.1:p.Lys731=
NM_001366722.1:c.2361G>A MANE Select	NP_001353651.1:p.Lys787=
NM_001366723.1:c.2280G>A	NP_001353652.1:p.Lys760=
NM_001366724.1:c.2283G>A	NP_001353653.1:p.Lys761=
XM_005268754.4:c.2364G>A	XP_005268811.1:p.Lys788=
XM_005268757.4:c.2283G>A	XP_005268814.1:p.Lys761=
XM_017019098.1:c.2586G>A	XP_016874587.1:p.Lys862=
XM_017019099.1:c.2439G>A	XP_016874588.1:p.Lys813=
XM_017019100.1:c.2430G>A	XP_016874589.1:p.Lys810=
NM_001178074.2:c.2205G>A	NP_001171545.1:p.Lys735=
NM_021150.4:c.2205G>A	NP_066973.2:p.Lys735=
NM_001379345.1:c.2439G>A	NP_001366274.1:p.Lys813=
NM_001379346.1:c.2361G>A	NP_001366275.1:p.Lys787=
NM_001379347.1:c.2283G>A	NP_001366276.1:p.Lys761=
NM_001379348.1:c.2280G>A	NP_001366277.1:p.Lys760=
NM_001379349.1:c.2208G>A	NP_001366278.1:p.Lys736=
NM_001379351.1:c.2205G>A	NP_001366280.1:p.Lys735=