Canonical Allele Identifier: CA480573932

Gene: GRIP1

Linked Data

• dbSNP Id: rs767900832
• gnomAD v2: 12-66849256-G-A
• gnomAD v4: 12-66455476-G-A
• MyVariant Identifiers: chr12:g.66849256G>A (hg19) ; chr12:g.66455476G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.66455476G>A , CM000674.2:g.66455476G>A	GRCh38
NC_000012.11:g.66849256G>A , CM000674.1:g.66849256G>A	GRCh37
NC_000012.10:g.65135523G>A	NCBI36
NG_021400.1:g.228670C>T
NG_021400.2:g.618790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696989.1:c.1356C>T	ENSP00000513025.1:p.Leu452=
ENST00000359742.9:c.1287C>T MANE Select	ENSP00000352780.4:p.Leu429=
ENST00000359742.8:c.1287C>T	ENSP00000352780.4:p.Leu429=
ENST00000398016.7:c.1131C>T	ENSP00000381098.3:p.Leu377=
ENST00000535002.1:c.393C>T
ENST00000536215.5:c.874+7448C>T	ENSP00000446011.1:n.874+7448C>T
ENST00000538164.5:c.731C>T
ENST00000538211.5:c.1131C>T	ENSP00000446047.1:p.Leu377=
ENST00000540433.5:c.963C>T	ENSP00000446024.1:p.Leu321=
ENST00000540854.5:c.337+60143C>T	ENSP00000443006.1:n.337+60143C>T
ENST00000543172.5:c.589C>T
NM_001178074.1:c.1131C>T	NP_001171545.1:p.Leu377=
NM_021150.3:c.1131C>T	NP_066973.2:p.Leu377=
XM_005268754.3:c.1290C>T	XP_005268811.1:p.Leu430=
XM_005268757.3:c.1209C>T	XP_005268814.1:p.Leu403=
XM_011538089.1:c.1512C>T	XP_011536391.1:p.Leu504=
XM_011538090.1:c.1512C>T	XP_011536392.1:p.Leu504=
XM_011538091.1:c.1356C>T	XP_011536393.1:p.Leu452=
XM_011538092.1:c.1356C>T	XP_011536394.1:p.Leu452=
XM_011538093.1:c.1287C>T	XP_011536395.1:p.Leu429=
XM_011538094.1:c.1119C>T	XP_011536396.1:p.Leu373=
NM_001366722.1:c.1287C>T MANE Select	NP_001353651.1:p.Leu429=
NM_001366723.1:c.1206C>T	NP_001353652.1:p.Leu402=
NM_001366724.1:c.1209C>T	NP_001353653.1:p.Leu403=
XM_005268754.4:c.1290C>T	XP_005268811.1:p.Leu430=
XM_005268757.4:c.1209C>T	XP_005268814.1:p.Leu403=
XM_017019098.1:c.1512C>T	XP_016874587.1:p.Leu504=
XM_017019099.1:c.1365C>T	XP_016874588.1:p.Leu455=
XM_017019100.1:c.1356C>T	XP_016874589.1:p.Leu452=
NM_001178074.2:c.1131C>T	NP_001171545.1:p.Leu377=
NM_021150.4:c.1131C>T	NP_066973.2:p.Leu377=
NM_001379345.1:c.1365C>T	NP_001366274.1:p.Leu455=
NM_001379346.1:c.1287C>T	NP_001366275.1:p.Leu429=
NM_001379347.1:c.1209C>T	NP_001366276.1:p.Leu403=
NM_001379348.1:c.1206C>T	NP_001366277.1:p.Leu402=
NM_001379349.1:c.1134C>T	NP_001366278.1:p.Leu378=
NM_001379351.1:c.1131C>T	NP_001366280.1:p.Leu377=