Canonical Allele Identifier: CA480573955

Gene: GRIP1

Linked Data

• gnomAD v4: 12-66455488-T-C
• MyVariant Identifiers: chr12:g.66849268T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.66455488T>C , CM000674.2:g.66455488T>C	GRCh38
NC_000012.11:g.66849268T>C , CM000674.1:g.66849268T>C	GRCh37
NC_000012.10:g.65135535T>C	NCBI36
NG_021400.1:g.228658A>G
NG_021400.2:g.618778A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696989.1:c.1344A>G	ENSP00000513025.1:p.Leu448=
ENST00000359742.9:c.1275A>G MANE Select	ENSP00000352780.4:p.Leu425=
ENST00000359742.8:c.1275A>G	ENSP00000352780.4:p.Leu425=
ENST00000398016.7:c.1119A>G	ENSP00000381098.3:p.Leu373=
ENST00000535002.1:c.381A>G
ENST00000536215.5:c.874+7436A>G	ENSP00000446011.1:n.874+7436A>G
ENST00000538164.5:c.719A>G
ENST00000538211.5:c.1119A>G	ENSP00000446047.1:p.Leu373=
ENST00000540433.5:c.951A>G	ENSP00000446024.1:p.Leu317=
ENST00000540854.5:c.337+60131A>G	ENSP00000443006.1:n.337+60131A>G
ENST00000543172.5:c.577A>G
NM_001178074.1:c.1119A>G	NP_001171545.1:p.Leu373=
NM_021150.3:c.1119A>G	NP_066973.2:p.Leu373=
XM_005268754.3:c.1278A>G	XP_005268811.1:p.Leu426=
XM_005268757.3:c.1197A>G	XP_005268814.1:p.Leu399=
XM_011538089.1:c.1500A>G	XP_011536391.1:p.Leu500=
XM_011538090.1:c.1500A>G	XP_011536392.1:p.Leu500=
XM_011538091.1:c.1344A>G	XP_011536393.1:p.Leu448=
XM_011538092.1:c.1344A>G	XP_011536394.1:p.Leu448=
XM_011538093.1:c.1275A>G	XP_011536395.1:p.Leu425=
XM_011538094.1:c.1107A>G	XP_011536396.1:p.Leu369=
NM_001366722.1:c.1275A>G MANE Select	NP_001353651.1:p.Leu425=
NM_001366723.1:c.1194A>G	NP_001353652.1:p.Leu398=
NM_001366724.1:c.1197A>G	NP_001353653.1:p.Leu399=
XM_005268754.4:c.1278A>G	XP_005268811.1:p.Leu426=
XM_005268757.4:c.1197A>G	XP_005268814.1:p.Leu399=
XM_017019098.1:c.1500A>G	XP_016874587.1:p.Leu500=
XM_017019099.1:c.1353A>G	XP_016874588.1:p.Leu451=
XM_017019100.1:c.1344A>G	XP_016874589.1:p.Leu448=
NM_001178074.2:c.1119A>G	NP_001171545.1:p.Leu373=
NM_021150.4:c.1119A>G	NP_066973.2:p.Leu373=
NM_001379345.1:c.1353A>G	NP_001366274.1:p.Leu451=
NM_001379346.1:c.1275A>G	NP_001366275.1:p.Leu425=
NM_001379347.1:c.1197A>G	NP_001366276.1:p.Leu399=
NM_001379348.1:c.1194A>G	NP_001366277.1:p.Leu398=
NM_001379349.1:c.1122A>G	NP_001366278.1:p.Leu374=
NM_001379351.1:c.1119A>G	NP_001366280.1:p.Leu373=