Canonical Allele Identifier: CA344043157

Gene: CRB1

Linked Data

• dbSNP Id: rs557111131
• gnomAD v2: 1-197403868-G-T
• gnomAD v4: 1-197434738-G-T
• MyVariant Identifiers: chr1:g.197403868G>T (hg19) ; chr1:g.197434738G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434738G>T , CM000663.2:g.197434738G>T	GRCh38
NC_000001.10:g.197403868G>T , CM000663.1:g.197403868G>T	GRCh37
NC_000001.9:g.195670491G>T	NCBI36
NG_008483.1:g.171461G>T
NG_008483.2:g.238277G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2875G>T MANE Select	ENSP00000356370.3:p.Gly959Cys
ENST00000638467.1:c.2875G>T	ENSP00000491102.1:p.Gly959Cys
ENST00000681519.1:c.1756G>T	ENSP00000505267.1:p.Gly586Cys
ENST00000367397.1:c.1018G>T	ENSP00000356367.1:p.Gly340Cys
ENST00000367399.6:c.2539G>T	ENSP00000356369.2:p.Gly847Cys
ENST00000367400.7:c.2875G>T	ENSP00000356370.3:p.Gly959Cys
ENST00000484075.5:c.2875G>T	ENSP00000433932.1:p.Gly959Cys
ENST00000535699.5:c.2803G>T	ENSP00000438786.1:p.Gly935Cys
ENST00000538660.5:c.2129-862G>T	ENSP00000438091.1:n.2129-862G>T
NM_001193640.1:c.2539G>T	NP_001180569.1:p.Gly847Cys
NM_001257965.1:c.2803G>T	NP_001244894.1:p.Gly935Cys
NM_001257966.1:c.2129-862G>T	NP_001244895.1:n.2129-862G>T
NM_201253.2:c.2875G>T	NP_957705.1:p.Gly959Cys
NR_047563.1:n.2876G>T
NR_047564.1:n.3084G>T
XM_011509365.1:c.2875G>T	XP_011507667.1:p.Gly959Cys
XM_011509366.1:c.2875G>T	XP_011507668.1:p.Gly959Cys
XM_011509367.1:c.2875G>T	XP_011507669.1:p.Gly959Cys
XM_011509368.1:c.2293G>T	XP_011507670.1:p.Gly765Cys
XM_011509369.1:c.1318G>T	XP_011507671.1:p.Gly440Cys
XM_011509365.2:c.2875G>T	XP_011507667.1:p.Gly959Cys
XM_011509369.2:c.1318G>T	XP_011507671.1:p.Gly440Cys
XM_017000851.1:c.2032G>T	XP_016856340.1:p.Gly678Cys
XM_017000852.1:c.3010G>T	XP_016856341.1:p.Gly1004Cys
NM_201253.3:c.2875G>T MANE Select	NP_957705.1:p.Gly959Cys
NM_001193640.2:c.2539G>T	NP_001180569.1:p.Gly847Cys
NM_001257965.2:c.2803G>T	NP_001244894.1:p.Gly935Cys
NR_047563.2:n.2828G>T
NR_047564.2:n.3036G>T
NM_001257966.2:c.2129-862G>T	NP_001244895.1:n.2129-862G>T