Canonical Allele Identifier: CA10638420

Gene: GRIP1

Linked Data

• ClinVar Variation Id: 310276
• ClinVar RCV Id: RCV000399060 ; RCV003897711
• dbSNP Id: rs886049791
• gnomAD v2: 12-66741537-A-T
• gnomAD v3: 12-66347757-A-T
• gnomAD v4: 12-66347757-A-T
• MyVariant Identifiers: chr12:g.66741537A>T (hg19) ; chr12:g.66741537_66741539delinsTTT (hg19) ; chr12:g.66347757A>T (hg38) ; chr12:g.66347757_66347759delinsTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.66347757A>T , CM000674.2:g.66347757A>T	GRCh38
NC_000012.11:g.66741537A>T , CM000674.1:g.66741537A>T	GRCh37
NC_000012.10:g.65027804A>T	NCBI36
NG_021400.1:g.336389T>A
NG_021400.2:g.726509T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696989.1:c.*1262T>A	ENSP00000513025.1:n.*1262T>A
ENST00000359742.9:c.*1262T>A MANE Select	ENSP00000352780.4:n.*1262T>A
ENST00000359742.8:c.*1262T>A	ENSP00000352780.4:n.*1262T>A
ENST00000398016.7:c.*1262T>A	ENSP00000381098.3:n.*1262T>A
NM_001178074.1:c.*1262T>A	NP_001171545.1:n.*1262T>A
NM_021150.3:c.*1262T>A	NP_066973.2:n.*1262T>A
XM_005268754.3:c.*1262T>A	XP_005268811.1:n.*1262T>A
XM_005268757.3:c.*1262T>A	XP_005268814.1:n.*1262T>A
XM_011538089.1:c.*1262T>A	XP_011536391.1:n.*1262T>A
XM_011538090.1:c.*1262T>A	XP_011536392.1:n.*1262T>A
XM_011538091.1:c.*1262T>A	XP_011536393.1:n.*1262T>A
XM_011538092.1:c.*1262T>A	XP_011536394.1:n.*1262T>A
XM_011538093.1:c.*1262T>A	XP_011536395.1:n.*1262T>A
XM_011538094.1:c.*1262T>A	XP_011536396.1:n.*1262T>A
NM_001366722.1:c.*1262T>A MANE Select	NP_001353651.1:n.*1262T>A
NM_001366723.1:c.*1262T>A	NP_001353652.1:n.*1262T>A
NM_001366724.1:c.*1262T>A	NP_001353653.1:n.*1262T>A
XM_005268754.4:c.*1262T>A	XP_005268811.1:n.*1262T>A
XM_005268757.4:c.*1262T>A	XP_005268814.1:n.*1262T>A
XM_017019098.1:c.*1262T>A	XP_016874587.1:n.*1262T>A
XM_017019099.1:c.*1262T>A	XP_016874588.1:n.*1262T>A
XM_017019100.1:c.*1262T>A	XP_016874589.1:n.*1262T>A
NM_001178074.2:c.*1262T>A	NP_001171545.1:n.*1262T>A
NM_021150.4:c.*1262T>A	NP_066973.2:n.*1262T>A
NM_001379345.1:c.*1262T>A	NP_001366274.1:n.*1262T>A
NM_001379346.1:c.*1262T>A	NP_001366275.1:n.*1262T>A
NM_001379347.1:c.*1262T>A	NP_001366276.1:n.*1262T>A
NM_001379348.1:c.*1262T>A	NP_001366277.1:n.*1262T>A
NM_001379349.1:c.*1262T>A	NP_001366278.1:n.*1262T>A
NM_001379351.1:c.*1262T>A	NP_001366280.1:n.*1262T>A