Canonical Allele Identifier: CA10642378

Gene: GRIP1

Linked Data

• ClinVar Variation Id: 310315
• ClinVar RCV Id: RCV000276324 ; RCV003698761
• dbSNP Id: rs886049799
• gnomAD v4: 12-66541847-T-C
• COSMIC: COSM5051883 ; COSM5051884
• MyVariant Identifiers: chr12:g.66935627T>C (hg19) ; chr12:g.66541847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.66541847T>C , CM000674.2:g.66541847T>C	GRCh38
NC_000012.11:g.66935627T>C , CM000674.1:g.66935627T>C	GRCh37
NC_000012.10:g.65221894T>C	NCBI36
NG_021400.1:g.142299A>G
NG_021400.2:g.532419A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696989.1:c.465A>G	ENSP00000513025.1:p.Val155=
ENST00000359742.9:c.240A>G MANE Select	ENSP00000352780.4:p.Val80=
ENST00000359742.8:c.240A>G	ENSP00000352780.4:p.Val80=
ENST00000398016.7:c.240A>G	ENSP00000381098.3:p.Val80=
ENST00000536215.5:c.72A>G	ENSP00000446011.1:p.Val24=
ENST00000538211.5:c.240A>G	ENSP00000446047.1:p.Val80=
ENST00000539540.5:c.72A>G	ENSP00000443392.1:p.Val24=
ENST00000540433.5:c.72A>G	ENSP00000446024.1:p.Val24=
ENST00000541947.1:c.318A>G	ENSP00000438921.1:p.Val106=
ENST00000542309.5:c.72A>G	ENSP00000438500.1:p.Val24=
ENST00000545666.5:c.159A>G	ENSP00000439124.2:p.Val53=
NM_001178074.1:c.240A>G	NP_001171545.1:p.Val80=
NM_021150.3:c.240A>G	NP_066973.2:p.Val80=
XM_005268754.3:c.243A>G	XP_005268811.1:p.Val81=
XM_005268757.3:c.162A>G	XP_005268814.1:p.Val54=
XM_011538089.1:c.465A>G	XP_011536391.1:p.Val155=
XM_011538090.1:c.465A>G	XP_011536392.1:p.Val155=
XM_011538091.1:c.465A>G	XP_011536393.1:p.Val155=
XM_011538092.1:c.465A>G	XP_011536394.1:p.Val155=
XM_011538093.1:c.240A>G	XP_011536395.1:p.Val80=
XM_011538094.1:c.72A>G	XP_011536396.1:p.Val24=
NM_001366722.1:c.240A>G MANE Select	NP_001353651.1:p.Val80=
NM_001366723.1:c.318A>G	NP_001353652.1:p.Val106=
NM_001366724.1:c.318A>G	NP_001353653.1:p.Val106=
XM_005268754.4:c.243A>G	XP_005268811.1:p.Val81=
XM_005268757.4:c.162A>G	XP_005268814.1:p.Val54=
XM_017019098.1:c.465A>G	XP_016874587.1:p.Val155=
XM_017019099.1:c.318A>G	XP_016874588.1:p.Val106=
XM_017019100.1:c.465A>G	XP_016874589.1:p.Val155=
NM_001178074.2:c.240A>G	NP_001171545.1:p.Val80=
NM_021150.4:c.240A>G	NP_066973.2:p.Val80=
NM_001379345.1:c.318A>G	NP_001366274.1:p.Val106=
NM_001379346.1:c.240A>G	NP_001366275.1:p.Val80=
NM_001379347.1:c.318A>G	NP_001366276.1:p.Val106=
NM_001379348.1:c.318A>G	NP_001366277.1:p.Val106=
NM_001379349.1:c.243A>G	NP_001366278.1:p.Val81=
NM_001379351.1:c.243A>G	NP_001366280.1:p.Val81=