Canonical Allele Identifier: CA2649670282

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429141C>T , CM000663.2:g.197429141C>T	GRCh38
NC_000001.10:g.197398271C>T , CM000663.1:g.197398271C>T	GRCh37
NC_000001.9:g.195664894C>T	NCBI36
NG_008483.1:g.165864C>T
NG_008483.2:g.232680C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2677-308C>T MANE Select	NP_957705.1:n.2677-308C>T
ENST00000367400.8:c.2677-308C>T MANE Select	ENSP00000356370.3:n.2677-308C>T
NM_001193640.1:c.2341-308C>T	NP_001180569.1:n.2341-308C>T
NM_001193640.2:c.2341-308C>T	NP_001180569.1:n.2341-308C>T
NM_001257965.1:c.2604+33C>T	NP_001244894.1:n.2604+33C>T
NM_001257965.2:c.2604+33C>T	NP_001244894.1:n.2604+33C>T
NM_001257966.1:c.2129-6459C>T	NP_001244895.1:n.2129-6459C>T
NM_001257966.2:c.2129-6459C>T	NP_001244895.1:n.2129-6459C>T
NM_201253.2:c.2677-308C>T	NP_957705.1:n.2677-308C>T
NR_047563.1:n.2678-308C>T
NR_047563.2:n.2630-308C>T
NR_047564.1:n.2886-308C>T
NR_047564.2:n.2838-308C>T
ENST00000367397.1:c.820-308C>T	ENSP00000356367.1:n.820-308C>T
ENST00000367399.6:c.2341-308C>T	ENSP00000356369.2:n.2341-308C>T
ENST00000367400.7:c.2677-308C>T	ENSP00000356370.3:n.2677-308C>T
ENST00000484075.5:c.2677-308C>T	ENSP00000433932.1:n.2677-308C>T
ENST00000535699.5:c.2604+33C>T	ENSP00000438786.1:n.2604+33C>T
ENST00000538660.5:c.2129-6459C>T	ENSP00000438091.1:n.2129-6459C>T
ENST00000638467.1:c.2677-308C>T	ENSP00000491102.1:n.2677-308C>T
ENST00000681519.1:c.1558-308C>T	ENSP00000505267.1:n.1558-308C>T
XM_011509365.1:c.2677-308C>T	XP_011507667.1:n.2677-308C>T
XM_011509365.2:c.2677-308C>T	XP_011507667.1:n.2677-308C>T
XM_011509366.1:c.2677-308C>T	XP_011507668.1:n.2677-308C>T
XM_011509367.1:c.2677-308C>T	XP_011507669.1:n.2677-308C>T
XM_011509368.1:c.2095-308C>T	XP_011507670.1:n.2095-308C>T
XM_011509369.1:c.1120-308C>T	XP_011507671.1:n.1120-308C>T
XM_011509369.2:c.1120-308C>T	XP_011507671.1:n.1120-308C>T
XM_017000851.1:c.1834-308C>T	XP_016856340.1:n.1834-308C>T
XM_017000852.1:c.2811+33C>T	XP_016856341.1:n.2811+33C>T