Canonical Allele Identifier: CA1218062948

Gene: CRB1

Linked Data

• dbSNP Id: rs907979913
• gnomAD v4: 1-197420939-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197420939G>T , CM000663.2:g.197420939G>T	GRCh38
NC_000001.10:g.197390069G>T , CM000663.1:g.197390069G>T	GRCh37
NC_000001.9:g.195656692G>T	NCBI36
NG_008483.1:g.157662G>T
NG_008483.2:g.224478G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1172-61G>T MANE Select	ENSP00000356370.3:n.1172-61G>T
ENST00000638467.1:c.1172-61G>T	ENSP00000491102.1:n.1172-61G>T
ENST00000681519.1:c.53-61G>T	ENSP00000505267.1:n.53-61G>T
ENST00000367397.1:c.-686-61G>T	ENSP00000356367.1:n.-686-61G>T
ENST00000367399.6:c.836-61G>T	ENSP00000356369.2:n.836-61G>T
ENST00000367400.7:c.1172-61G>T	ENSP00000356370.3:n.1172-61G>T
ENST00000476483.1:n.132-61G>T
ENST00000484075.5:c.1172-61G>T	ENSP00000433932.1:n.1172-61G>T
ENST00000535699.5:c.965-61G>T	ENSP00000438786.1:n.965-61G>T
ENST00000538660.5:c.1172-61G>T	ENSP00000438091.1:n.1172-61G>T
NM_001193640.1:c.836-61G>T	NP_001180569.1:n.836-61G>T
NM_001257965.1:c.965-61G>T	NP_001244894.1:n.965-61G>T
NM_001257966.1:c.1172-61G>T	NP_001244895.1:n.1172-61G>T
NM_201253.2:c.1172-61G>T	NP_957705.1:n.1172-61G>T
NR_047563.1:n.1381-61G>T
NR_047564.1:n.1381-61G>T
XM_011509365.1:c.1172-61G>T	XP_011507667.1:n.1172-61G>T
XM_011509366.1:c.1172-61G>T	XP_011507668.1:n.1172-61G>T
XM_011509367.1:c.1172-61G>T	XP_011507669.1:n.1172-61G>T
XM_011509368.1:c.590-61G>T	XP_011507670.1:n.590-61G>T
XM_011509369.1:c.-386-61G>T	XP_011507671.1:n.-386-61G>T
XM_011509365.2:c.1172-61G>T	XP_011507667.1:n.1172-61G>T
XM_011509369.2:c.-386-61G>T	XP_011507671.1:n.-386-61G>T
XM_017000851.1:c.329-61G>T	XP_016856340.1:n.329-61G>T
XM_017000852.1:c.1172-61G>T	XP_016856341.1:n.1172-61G>T
NM_201253.3:c.1172-61G>T MANE Select	NP_957705.1:n.1172-61G>T
NM_001193640.2:c.836-61G>T	NP_001180569.1:n.836-61G>T
NM_001257965.2:c.965-61G>T	NP_001244894.1:n.965-61G>T
NR_047563.2:n.1333-61G>T
NR_047564.2:n.1333-61G>T
NM_001257966.2:c.1172-61G>T	NP_001244895.1:n.1172-61G>T