Canonical Allele Identifier: CA362112685
Gene: GABRP HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.170788634T>G , CM000667.2:g.170788634T>G GRCh38
NC_000005.9:g.170215638T>G , CM000667.1:g.170215638T>G GRCh37
NC_000005.8:g.170148216T>G NCBI36
NG_052803.1:g.9916T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265294.9:c.19T>G MANE Select ENSP00000265294.4:p.Leu7Val
ENST00000265294.8:c.19T>G ENSP00000265294.4:p.Leu7Val
ENST00000518122.5:c.19T>G ENSP00000429815.1:p.Leu7Val
ENST00000518525.5:c.19T>G ENSP00000430100.1:p.Leu7Val
ENST00000519196.5:c.19T>G ENSP00000429668.1:p.Leu7Val
ENST00000519385.5:c.19T>G ENSP00000430727.1:p.Leu7Val
ENST00000519598.1:c.19T>G ENSP00000430772.1:p.Leu7Val
ENST00000521009.5:c.19T>G ENSP00000428103.1:p.Leu7Val
ENST00000521481.5:c.19T>G ENSP00000428804.1:p.Leu7Val
ENST00000522868.5:c.19T>G ENSP00000430188.1:p.Leu7Val
NM_001291985.1:c.19T>G NP_001278914.1:p.Leu7Val
NM_014211.2:c.19T>G NP_055026.1:p.Leu7Val
XM_005265872.2:c.-100T>G XP_005265929.1:n.-100T>G
XM_011534502.1:c.19T>G XP_011532804.1:p.Leu7Val
XM_011534503.1:c.19T>G XP_011532805.1:p.Leu7Val
XM_011534504.1:c.19T>G XP_011532806.1:p.Leu7Val
XM_011534505.1:c.19T>G XP_011532807.1:p.Leu7Val
XM_011534506.1:c.19T>G XP_011532808.1:p.Leu7Val
XM_024446012.1:c.19T>G XP_024301780.1:p.Leu7Val
NM_014211.3:c.19T>G MANE Select NP_055026.1:p.Leu7Val
NM_001291985.2:c.19T>G NP_001278914.1:p.Leu7Val