Canonical Allele Identifier: CA385625846

Gene: GRIP1

Linked Data

• gnomAD v4: 12-66455446-C-T
• MyVariant Identifiers: chr12:g.66849226C>T (hg19) ; chr12:g.66455446C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.66455446C>T , CM000674.2:g.66455446C>T	GRCh38
NC_000012.11:g.66849226C>T , CM000674.1:g.66849226C>T	GRCh37
NC_000012.10:g.65135493C>T	NCBI36
NG_021400.1:g.228700G>A
NG_021400.2:g.618820G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696989.1:c.1386G>A	ENSP00000513025.1:p.Met462Ile
ENST00000359742.9:c.1317G>A MANE Select	ENSP00000352780.4:p.Met439Ile
ENST00000359742.8:c.1317G>A	ENSP00000352780.4:p.Met439Ile
ENST00000398016.7:c.1161G>A	ENSP00000381098.3:p.Met387Ile
ENST00000535002.1:c.423G>A
ENST00000536215.5:c.874+7478G>A	ENSP00000446011.1:n.874+7478G>A
ENST00000538164.5:c.761G>A
ENST00000538211.5:c.1161G>A	ENSP00000446047.1:p.Met387Ile
ENST00000540433.5:c.993G>A	ENSP00000446024.1:p.Met331Ile
ENST00000540854.5:c.337+60173G>A	ENSP00000443006.1:n.337+60173G>A
ENST00000543172.5:c.619G>A
NM_001178074.1:c.1161G>A	NP_001171545.1:p.Met387Ile
NM_021150.3:c.1161G>A	NP_066973.2:p.Met387Ile
XM_005268754.3:c.1320G>A	XP_005268811.1:p.Met440Ile
XM_005268757.3:c.1239G>A	XP_005268814.1:p.Met413Ile
XM_011538089.1:c.1542G>A	XP_011536391.1:p.Met514Ile
XM_011538090.1:c.1542G>A	XP_011536392.1:p.Met514Ile
XM_011538091.1:c.1386G>A	XP_011536393.1:p.Met462Ile
XM_011538092.1:c.1386G>A	XP_011536394.1:p.Met462Ile
XM_011538093.1:c.1317G>A	XP_011536395.1:p.Met439Ile
XM_011538094.1:c.1149G>A	XP_011536396.1:p.Met383Ile
NM_001366722.1:c.1317G>A MANE Select	NP_001353651.1:p.Met439Ile
NM_001366723.1:c.1236G>A	NP_001353652.1:p.Met412Ile
NM_001366724.1:c.1239G>A	NP_001353653.1:p.Met413Ile
XM_005268754.4:c.1320G>A	XP_005268811.1:p.Met440Ile
XM_005268757.4:c.1239G>A	XP_005268814.1:p.Met413Ile
XM_017019098.1:c.1542G>A	XP_016874587.1:p.Met514Ile
XM_017019099.1:c.1395G>A	XP_016874588.1:p.Met465Ile
XM_017019100.1:c.1386G>A	XP_016874589.1:p.Met462Ile
NM_001178074.2:c.1161G>A	NP_001171545.1:p.Met387Ile
NM_021150.4:c.1161G>A	NP_066973.2:p.Met387Ile
NM_001379345.1:c.1395G>A	NP_001366274.1:p.Met465Ile
NM_001379346.1:c.1317G>A	NP_001366275.1:p.Met439Ile
NM_001379347.1:c.1239G>A	NP_001366276.1:p.Met413Ile
NM_001379348.1:c.1236G>A	NP_001366277.1:p.Met412Ile
NM_001379349.1:c.1164G>A	NP_001366278.1:p.Met388Ile
NM_001379351.1:c.1161G>A	NP_001366280.1:p.Met387Ile