Canonical Allele Identifier: CA344040425

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197398597G>C (hg19) ; chr1:g.197429467G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429467G>C , CM000663.2:g.197429467G>C	GRCh38
NC_000001.10:g.197398597G>C , CM000663.1:g.197398597G>C	GRCh37
NC_000001.9:g.195665220G>C	NCBI36
NG_008483.1:g.166190G>C
NG_008483.2:g.233006G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2695G>C MANE Select	ENSP00000356370.3:p.Gly899Arg
ENST00000638467.1:c.2695G>C	ENSP00000491102.1:p.Gly899Arg
ENST00000681519.1:c.1576G>C	ENSP00000505267.1:p.Gly526Arg
ENST00000367397.1:c.838G>C	ENSP00000356367.1:p.Gly280Arg
ENST00000367399.6:c.2359G>C	ENSP00000356369.2:p.Gly787Arg
ENST00000367400.7:c.2695G>C	ENSP00000356370.3:p.Gly899Arg
ENST00000484075.5:c.2695G>C	ENSP00000433932.1:p.Gly899Arg
ENST00000535699.5:c.2623G>C	ENSP00000438786.1:p.Gly875Arg
ENST00000538660.5:c.2129-6133G>C	ENSP00000438091.1:n.2129-6133G>C
NM_001193640.1:c.2359G>C	NP_001180569.1:p.Gly787Arg
NM_001257965.1:c.2623G>C	NP_001244894.1:p.Gly875Arg
NM_001257966.1:c.2129-6133G>C	NP_001244895.1:n.2129-6133G>C
NM_201253.2:c.2695G>C	NP_957705.1:p.Gly899Arg
NR_047563.1:n.2696G>C
NR_047564.1:n.2904G>C
XM_011509365.1:c.2695G>C	XP_011507667.1:p.Gly899Arg
XM_011509366.1:c.2695G>C	XP_011507668.1:p.Gly899Arg
XM_011509367.1:c.2695G>C	XP_011507669.1:p.Gly899Arg
XM_011509368.1:c.2113G>C	XP_011507670.1:p.Gly705Arg
XM_011509369.1:c.1138G>C	XP_011507671.1:p.Gly380Arg
XM_011509365.2:c.2695G>C	XP_011507667.1:p.Gly899Arg
XM_011509369.2:c.1138G>C	XP_011507671.1:p.Gly380Arg
XM_017000851.1:c.1852G>C	XP_016856340.1:p.Gly618Arg
XM_017000852.1:c.2830G>C	XP_016856341.1:p.Gly944Arg
NM_201253.3:c.2695G>C MANE Select	NP_957705.1:p.Gly899Arg
NM_001193640.2:c.2359G>C	NP_001180569.1:p.Gly787Arg
NM_001257965.2:c.2623G>C	NP_001244894.1:p.Gly875Arg
NR_047563.2:n.2648G>C
NR_047564.2:n.2856G>C
NM_001257966.2:c.2129-6133G>C	NP_001244895.1:n.2129-6133G>C