Canonical Allele Identifier: CA2649670627

Gene: CRB1

Linked Data

• gnomAD v4: 1-197434673-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434673A>C , CM000663.2:g.197434673A>C	GRCh38
NC_000001.10:g.197403803A>C , CM000663.1:g.197403803A>C	GRCh37
NC_000001.9:g.195670426A>C	NCBI36
NG_008483.1:g.171396A>C
NG_008483.2:g.238212A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2843-33A>C MANE Select	ENSP00000356370.3:n.2843-33A>C
ENST00000638467.1:c.2843-33A>C	ENSP00000491102.1:n.2843-33A>C
ENST00000681519.1:c.1724-33A>C	ENSP00000505267.1:n.1724-33A>C
ENST00000367397.1:c.986-33A>C	ENSP00000356367.1:n.986-33A>C
ENST00000367399.6:c.2507-33A>C	ENSP00000356369.2:n.2507-33A>C
ENST00000367400.7:c.2843-33A>C	ENSP00000356370.3:n.2843-33A>C
ENST00000484075.5:c.2843-33A>C	ENSP00000433932.1:n.2843-33A>C
ENST00000535699.5:c.2771-33A>C	ENSP00000438786.1:n.2771-33A>C
ENST00000538660.5:c.2129-927A>C	ENSP00000438091.1:n.2129-927A>C
NM_001193640.1:c.2507-33A>C	NP_001180569.1:n.2507-33A>C
NM_001257965.1:c.2771-33A>C	NP_001244894.1:n.2771-33A>C
NM_001257966.1:c.2129-927A>C	NP_001244895.1:n.2129-927A>C
NM_201253.2:c.2843-33A>C	NP_957705.1:n.2843-33A>C
NR_047563.1:n.2844-33A>C
NR_047564.1:n.3052-33A>C
XM_011509365.1:c.2843-33A>C	XP_011507667.1:n.2843-33A>C
XM_011509366.1:c.2843-33A>C	XP_011507668.1:n.2843-33A>C
XM_011509367.1:c.2843-33A>C	XP_011507669.1:n.2843-33A>C
XM_011509368.1:c.2261-33A>C	XP_011507670.1:n.2261-33A>C
XM_011509369.1:c.1286-33A>C	XP_011507671.1:n.1286-33A>C
XM_011509365.2:c.2843-33A>C	XP_011507667.1:n.2843-33A>C
XM_011509369.2:c.1286-33A>C	XP_011507671.1:n.1286-33A>C
XM_017000851.1:c.2000-33A>C	XP_016856340.1:n.2000-33A>C
XM_017000852.1:c.2978-33A>C	XP_016856341.1:n.2978-33A>C
NM_201253.3:c.2843-33A>C MANE Select	NP_957705.1:n.2843-33A>C
NM_001193640.2:c.2507-33A>C	NP_001180569.1:n.2507-33A>C
NM_001257965.2:c.2771-33A>C	NP_001244894.1:n.2771-33A>C
NR_047563.2:n.2796-33A>C
NR_047564.2:n.3004-33A>C
NM_001257966.2:c.2129-927A>C	NP_001244895.1:n.2129-927A>C