Canonical Allele Identifier: CA344052443

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197442185G>T , CM000663.2:g.197442185G>T	GRCh38
NC_000001.10:g.197411315G>T , CM000663.1:g.197411315G>T	GRCh37
NC_000001.9:g.195677938G>T	NCBI36
NG_008483.1:g.178908G>T
NG_008483.2:g.245724G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3898G>T MANE Select	NP_957705.1:p.Glu1300Ter
ENST00000367400.8:c.3898G>T MANE Select	ENSP00000356370.3:p.Glu1300Ter
NM_001193640.1:c.3562G>T	NP_001180569.1:p.Glu1188Ter
NM_001193640.2:c.3562G>T	NP_001180569.1:p.Glu1188Ter
NM_001257965.1:c.3826G>T	NP_001244894.1:p.Glu1276Ter
NM_001257965.2:c.3826G>T	NP_001244894.1:p.Glu1276Ter
NM_001257966.1:c.2290G>T	NP_001244895.1:p.Glu764Ter
NM_001257966.2:c.2290G>T	NP_001244895.1:p.Glu764Ter
NM_201253.2:c.3898G>T	NP_957705.1:p.Glu1300Ter
NR_047563.1:n.3899G>T
NR_047563.2:n.3851G>T
NR_047564.1:n.4107G>T
NR_047564.2:n.4059G>T
ENST00000367397.1:c.*3506G>T	ENSP00000356367.1:n.*3506G>T
ENST00000367399.6:c.3562G>T	ENSP00000356369.2:p.Glu1188Ter
ENST00000367400.7:c.3898G>T	ENSP00000356370.3:p.Glu1300Ter
ENST00000448952.1:c.16G>T	ENSP00000395407.1:p.Glu6Ter
ENST00000484075.5:c.3898G>T	ENSP00000433932.1:p.Glu1300Ter
ENST00000535699.5:c.3826G>T	ENSP00000438786.1:p.Glu1276Ter
ENST00000538660.5:c.2290G>T	ENSP00000438091.1:p.Glu764Ter
ENST00000638467.1:c.3898G>T	ENSP00000491102.1:p.Glu1300Ter
ENST00000681519.1:c.2779G>T	ENSP00000505267.1:p.Glu927Ter
XM_011509365.1:c.3898G>T	XP_011507667.1:p.Glu1300Ter
XM_011509365.2:c.3898G>T	XP_011507667.1:p.Glu1300Ter
XM_011509366.1:c.3898G>T	XP_011507668.1:p.Glu1300Ter
XM_011509367.1:c.3878+3510G>T	XP_011507669.1:n.3878+3510G>T
XM_011509368.1:c.3316G>T	XP_011507670.1:p.Glu1106Ter
XM_011509369.1:c.2341G>T	XP_011507671.1:p.Glu781Ter
XM_011509369.2:c.2341G>T	XP_011507671.1:p.Glu781Ter
XM_017000851.1:c.3055G>T	XP_016856340.1:p.Glu1019Ter
XM_017000852.1:c.4033G>T	XP_016856341.1:p.Glu1345Ter