Canonical Allele Identifier: CA1600547703
Community Standard Title: NM_014211.3(GABRP):c.19T= (p.Leu7=)
Gene: GABRP HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_014211.3:c.19T= MANE Select NP_055026.1:p.Leu7=
ENST00000265294.9:c.19T= MANE Select ENSP00000265294.4:p.Leu7=
NM_001291985.1:c.19T= NP_001278914.1:p.Leu7=
NM_001291985.2:c.19T= NP_001278914.1:p.Leu7=
NM_014211.2:c.19T= NP_055026.1:p.Leu7=
ENST00000265294.8:c.19T= ENSP00000265294.4:p.Leu7=
ENST00000518122.5:c.19T= ENSP00000429815.1:p.Leu7=
ENST00000518525.5:c.19T= ENSP00000430100.1:p.Leu7=
ENST00000519196.5:c.19T= ENSP00000429668.1:p.Leu7=
ENST00000519385.5:c.19T= ENSP00000430727.1:p.Leu7=
ENST00000519598.1:c.19T= ENSP00000430772.1:p.Leu7=
ENST00000521009.5:c.19T= ENSP00000428103.1:p.Leu7=
ENST00000521481.5:c.19T= ENSP00000428804.1:p.Leu7=
ENST00000522868.5:c.19T= ENSP00000430188.1:p.Leu7=
XM_005265872.2:c.-100T= XP_005265929.1:n.-100T=
XM_011534502.1:c.19T= XP_011532804.1:p.Leu7=
XM_011534503.1:c.19T= XP_011532805.1:p.Leu7=
XM_011534504.1:c.19T= XP_011532806.1:p.Leu7=
XM_011534505.1:c.19T= XP_011532807.1:p.Leu7=
XM_011534506.1:c.19T= XP_011532808.1:p.Leu7=
XM_024446012.1:c.19T= XP_024301780.1:p.Leu7=