Canonical Allele Identifier: CA344044254

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434843A>G , CM000663.2:g.197434843A>G	GRCh38
NC_000001.10:g.197403973A>G , CM000663.1:g.197403973A>G	GRCh37
NC_000001.9:g.195670596A>G	NCBI36
NG_008483.1:g.171566A>G
NG_008483.2:g.238382A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2980A>G MANE Select	NP_957705.1:p.Lys994Glu
ENST00000367400.8:c.2980A>G MANE Select	ENSP00000356370.3:p.Lys994Glu
NM_001193640.1:c.2644A>G	NP_001180569.1:p.Lys882Glu
NM_001193640.2:c.2644A>G	NP_001180569.1:p.Lys882Glu
NM_001257965.1:c.2908A>G	NP_001244894.1:p.Lys970Glu
NM_001257965.2:c.2908A>G	NP_001244894.1:p.Lys970Glu
NM_001257966.1:c.2129-757A>G	NP_001244895.1:n.2129-757A>G
NM_001257966.2:c.2129-757A>G	NP_001244895.1:n.2129-757A>G
NM_201253.2:c.2980A>G	NP_957705.1:p.Lys994Glu
NR_047563.1:n.2981A>G
NR_047563.2:n.2933A>G
NR_047564.1:n.3189A>G
NR_047564.2:n.3141A>G
ENST00000367397.1:c.1123A>G	ENSP00000356367.1:p.Lys375Glu
ENST00000367399.6:c.2644A>G	ENSP00000356369.2:p.Lys882Glu
ENST00000367400.7:c.2980A>G	ENSP00000356370.3:p.Lys994Glu
ENST00000484075.5:c.2980A>G	ENSP00000433932.1:p.Lys994Glu
ENST00000535699.5:c.2908A>G	ENSP00000438786.1:p.Lys970Glu
ENST00000538660.5:c.2129-757A>G	ENSP00000438091.1:n.2129-757A>G
ENST00000638467.1:c.2980A>G	ENSP00000491102.1:p.Lys994Glu
ENST00000681519.1:c.1861A>G	ENSP00000505267.1:p.Lys621Glu
XM_011509365.1:c.2980A>G	XP_011507667.1:p.Lys994Glu
XM_011509365.2:c.2980A>G	XP_011507667.1:p.Lys994Glu
XM_011509366.1:c.2980A>G	XP_011507668.1:p.Lys994Glu
XM_011509367.1:c.2980A>G	XP_011507669.1:p.Lys994Glu
XM_011509368.1:c.2398A>G	XP_011507670.1:p.Lys800Glu
XM_011509369.1:c.1423A>G	XP_011507671.1:p.Lys475Glu
XM_011509369.2:c.1423A>G	XP_011507671.1:p.Lys475Glu
XM_017000851.1:c.2137A>G	XP_016856340.1:p.Lys713Glu
XM_017000852.1:c.3115A>G	XP_016856341.1:p.Lys1039Glu