Canonical Allele Identifier: CA1140762960

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434985T= , CM000663.2:g.197434985T=	GRCh38
NC_000001.10:g.197404115T= , CM000663.1:g.197404115T=	GRCh37
NC_000001.9:g.195670738T=	NCBI36
NG_008483.1:g.171708T=
NG_008483.2:g.238524T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3122T= MANE Select	ENSP00000356370.3:p.Met1041=
ENST00000638467.1:c.3122T=	ENSP00000491102.1:p.Met1041=
ENST00000681519.1:c.2003T=	ENSP00000505267.1:p.Met668=
ENST00000367397.1:c.1265T=	ENSP00000356367.1:p.Met422=
ENST00000367399.6:c.2786T=	ENSP00000356369.2:p.Met929=
ENST00000367400.7:c.3122T=	ENSP00000356370.3:p.Met1041=
ENST00000484075.5:c.3122T=	ENSP00000433932.1:p.Met1041=
ENST00000535699.5:c.3050T=	ENSP00000438786.1:p.Met1017=
ENST00000538660.5:c.2129-615T=	ENSP00000438091.1:n.2129-615T=
NM_001193640.1:c.2786T=	NP_001180569.1:p.Met929=
NM_001257965.1:c.3050T=	NP_001244894.1:p.Met1017=
NM_001257966.1:c.2129-615T=	NP_001244895.1:n.2129-615T=
NM_201253.2:c.3122T=	NP_957705.1:p.Met1041=
NR_047563.1:n.3123T=
NR_047564.1:n.3331T=
XM_011509365.1:c.3122T=	XP_011507667.1:p.Met1041=
XM_011509366.1:c.3122T=	XP_011507668.1:p.Met1041=
XM_011509367.1:c.3122T=	XP_011507669.1:p.Met1041=
XM_011509368.1:c.2540T=	XP_011507670.1:p.Met847=
XM_011509369.1:c.1565T=	XP_011507671.1:p.Met522=
XM_011509365.2:c.3122T=	XP_011507667.1:p.Met1041=
XM_011509369.2:c.1565T=	XP_011507671.1:p.Met522=
XM_017000851.1:c.2279T=	XP_016856340.1:p.Met760=
XM_017000852.1:c.3257T=	XP_016856341.1:p.Met1086=
NM_201253.3:c.3122T= MANE Select	NP_957705.1:p.Met1041=
NM_001193640.2:c.2786T=	NP_001180569.1:p.Met929=
NM_001257965.2:c.3050T=	NP_001244894.1:p.Met1017=
NR_047563.2:n.3075T=
NR_047564.2:n.3283T=
NM_001257966.2:c.2129-615T=	NP_001244895.1:n.2129-615T=