Canonical Allele Identifier: CA344043851

Gene: CRB1

Linked Data

• gnomAD v4: 1-197434810-A-T
• COSMIC: COSM5700619 ; COSM5700620
• MyVariant Identifiers: chr1:g.197403940A>T (hg19) ; chr1:g.197434810A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434810A>T , CM000663.2:g.197434810A>T	GRCh38
NC_000001.10:g.197403940A>T , CM000663.1:g.197403940A>T	GRCh37
NC_000001.9:g.195670563A>T	NCBI36
NG_008483.1:g.171533A>T
NG_008483.2:g.238349A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2947A>T MANE Select	ENSP00000356370.3:p.Arg983Trp
ENST00000638467.1:c.2947A>T	ENSP00000491102.1:p.Arg983Trp
ENST00000681519.1:c.1828A>T	ENSP00000505267.1:p.Arg610Trp
ENST00000367397.1:c.1090A>T	ENSP00000356367.1:p.Arg364Trp
ENST00000367399.6:c.2611A>T	ENSP00000356369.2:p.Arg871Trp
ENST00000367400.7:c.2947A>T	ENSP00000356370.3:p.Arg983Trp
ENST00000484075.5:c.2947A>T	ENSP00000433932.1:p.Arg983Trp
ENST00000535699.5:c.2875A>T	ENSP00000438786.1:p.Arg959Trp
ENST00000538660.5:c.2129-790A>T	ENSP00000438091.1:n.2129-790A>T
NM_001193640.1:c.2611A>T	NP_001180569.1:p.Arg871Trp
NM_001257965.1:c.2875A>T	NP_001244894.1:p.Arg959Trp
NM_001257966.1:c.2129-790A>T	NP_001244895.1:n.2129-790A>T
NM_201253.2:c.2947A>T	NP_957705.1:p.Arg983Trp
NR_047563.1:n.2948A>T
NR_047564.1:n.3156A>T
XM_011509365.1:c.2947A>T	XP_011507667.1:p.Arg983Trp
XM_011509366.1:c.2947A>T	XP_011507668.1:p.Arg983Trp
XM_011509367.1:c.2947A>T	XP_011507669.1:p.Arg983Trp
XM_011509368.1:c.2365A>T	XP_011507670.1:p.Arg789Trp
XM_011509369.1:c.1390A>T	XP_011507671.1:p.Arg464Trp
XM_011509365.2:c.2947A>T	XP_011507667.1:p.Arg983Trp
XM_011509369.2:c.1390A>T	XP_011507671.1:p.Arg464Trp
XM_017000851.1:c.2104A>T	XP_016856340.1:p.Arg702Trp
XM_017000852.1:c.3082A>T	XP_016856341.1:p.Arg1028Trp
NM_201253.3:c.2947A>T MANE Select	NP_957705.1:p.Arg983Trp
NM_001193640.2:c.2611A>T	NP_001180569.1:p.Arg871Trp
NM_001257965.2:c.2875A>T	NP_001244894.1:p.Arg959Trp
NR_047563.2:n.2900A>T
NR_047564.2:n.3108A>T
NM_001257966.2:c.2129-790A>T	NP_001244895.1:n.2129-790A>T