Canonical Allele Identifier: CA2649672987

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477932-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477932G>C , CM000663.2:g.197477932G>C	GRCh38
NC_000001.10:g.197447062G>C , CM000663.1:g.197447062G>C	GRCh37
NC_000001.9:g.195713685G>C	NCBI36
NG_008483.1:g.214655G>C
NG_008483.2:g.281471G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*53G>C MANE Select	ENSP00000356370.3:n.*53G>C
ENST00000367400.7:c.*53G>C	ENSP00000356370.3:n.*53G>C
ENST00000448952.1:c.508G>C	ENSP00000395407.1:n.508G>C
ENST00000484075.5:c.*385G>C	ENSP00000433932.1:n.*385G>C
ENST00000535699.5:c.*53G>C	ENSP00000438786.1:n.*53G>C
ENST00000538660.5:c.*53G>C	ENSP00000438091.1:n.*53G>C
NM_001193640.1:c.*53G>C	NP_001180569.1:n.*53G>C
NM_001257965.1:c.*53G>C	NP_001244894.1:n.*53G>C
NM_001257966.1:c.*53G>C	NP_001244895.1:n.*53G>C
NM_201253.2:c.*53G>C	NP_957705.1:n.*53G>C
NR_047563.1:n.4275G>C
NR_047564.1:n.4725G>C
XM_011509366.1:c.*379G>C	XP_011507668.1:n.*379G>C
XM_011509367.1:c.*253G>C	XP_011507669.1:n.*253G>C
XM_011509368.1:c.*53G>C	XP_011507670.1:n.*53G>C
XM_011509369.1:c.*53G>C	XP_011507671.1:n.*53G>C
XM_011509369.2:c.*53G>C	XP_011507671.1:n.*53G>C
XM_017000851.1:c.*53G>C	XP_016856340.1:n.*53G>C
XM_017000852.1:c.*53G>C	XP_016856341.1:n.*53G>C
NM_201253.3:c.*53G>C MANE Select	NP_957705.1:n.*53G>C
NM_001193640.2:c.*53G>C	NP_001180569.1:n.*53G>C
NM_001257965.2:c.*53G>C	NP_001244894.1:n.*53G>C
NR_047563.2:n.4227G>C
NR_047564.2:n.4677G>C
NM_001257966.2:c.*53G>C	NP_001244895.1:n.*53G>C