Canonical Allele Identifier: CA385625794

Gene: GRIP1

Linked Data

• gnomAD v4: 12-66455436-G-T
• MyVariant Identifiers: chr12:g.66849216G>T (hg19) ; chr12:g.66455436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.66455436G>T , CM000674.2:g.66455436G>T	GRCh38
NC_000012.11:g.66849216G>T , CM000674.1:g.66849216G>T	GRCh37
NC_000012.10:g.65135483G>T	NCBI36
NG_021400.1:g.228710C>A
NG_021400.2:g.618830C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696989.1:c.1396C>A	ENSP00000513025.1:p.Leu466Met
ENST00000359742.9:c.1327C>A MANE Select	ENSP00000352780.4:p.Leu443Met
ENST00000359742.8:c.1327C>A	ENSP00000352780.4:p.Leu443Met
ENST00000398016.7:c.1171C>A	ENSP00000381098.3:p.Leu391Met
ENST00000535002.1:c.433C>A
ENST00000536215.5:c.874+7488C>A	ENSP00000446011.1:n.874+7488C>A
ENST00000538164.5:c.771C>A
ENST00000538211.5:c.1171C>A	ENSP00000446047.1:p.Leu391Met
ENST00000540433.5:c.1003C>A	ENSP00000446024.1:p.Leu335Met
ENST00000540854.5:c.337+60183C>A	ENSP00000443006.1:n.337+60183C>A
ENST00000543172.5:c.629C>A
NM_001178074.1:c.1171C>A	NP_001171545.1:p.Leu391Met
NM_021150.3:c.1171C>A	NP_066973.2:p.Leu391Met
XM_005268754.3:c.1330C>A	XP_005268811.1:p.Leu444Met
XM_005268757.3:c.1249C>A	XP_005268814.1:p.Leu417Met
XM_011538089.1:c.1552C>A	XP_011536391.1:p.Leu518Met
XM_011538090.1:c.1552C>A	XP_011536392.1:p.Leu518Met
XM_011538091.1:c.1396C>A	XP_011536393.1:p.Leu466Met
XM_011538092.1:c.1396C>A	XP_011536394.1:p.Leu466Met
XM_011538093.1:c.1327C>A	XP_011536395.1:p.Leu443Met
XM_011538094.1:c.1159C>A	XP_011536396.1:p.Leu387Met
NM_001366722.1:c.1327C>A MANE Select	NP_001353651.1:p.Leu443Met
NM_001366723.1:c.1246C>A	NP_001353652.1:p.Leu416Met
NM_001366724.1:c.1249C>A	NP_001353653.1:p.Leu417Met
XM_005268754.4:c.1330C>A	XP_005268811.1:p.Leu444Met
XM_005268757.4:c.1249C>A	XP_005268814.1:p.Leu417Met
XM_017019098.1:c.1552C>A	XP_016874587.1:p.Leu518Met
XM_017019099.1:c.1405C>A	XP_016874588.1:p.Leu469Met
XM_017019100.1:c.1396C>A	XP_016874589.1:p.Leu466Met
NM_001178074.2:c.1171C>A	NP_001171545.1:p.Leu391Met
NM_021150.4:c.1171C>A	NP_066973.2:p.Leu391Met
NM_001379345.1:c.1405C>A	NP_001366274.1:p.Leu469Met
NM_001379346.1:c.1327C>A	NP_001366275.1:p.Leu443Met
NM_001379347.1:c.1249C>A	NP_001366276.1:p.Leu417Met
NM_001379348.1:c.1246C>A	NP_001366277.1:p.Leu416Met
NM_001379349.1:c.1174C>A	NP_001366278.1:p.Leu392Met
NM_001379351.1:c.1171C>A	NP_001366280.1:p.Leu391Met