Canonical Allele Identifier: CA422672557

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197403936A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434806A>G , CM000663.2:g.197434806A>G	GRCh38
NC_000001.10:g.197403936A>G , CM000663.1:g.197403936A>G	GRCh37
NC_000001.9:g.195670559A>G	NCBI36
NG_008483.1:g.171529A>G
NG_008483.2:g.238345A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2943A>G MANE Select	ENSP00000356370.3:p.Arg981=
ENST00000638467.1:c.2943A>G	ENSP00000491102.1:p.Arg981=
ENST00000681519.1:c.1824A>G	ENSP00000505267.1:p.Arg608=
ENST00000367397.1:c.1086A>G	ENSP00000356367.1:p.Arg362=
ENST00000367399.6:c.2607A>G	ENSP00000356369.2:p.Arg869=
ENST00000367400.7:c.2943A>G	ENSP00000356370.3:p.Arg981=
ENST00000484075.5:c.2943A>G	ENSP00000433932.1:p.Arg981=
ENST00000535699.5:c.2871A>G	ENSP00000438786.1:p.Arg957=
ENST00000538660.5:c.2129-794A>G	ENSP00000438091.1:n.2129-794A>G
NM_001193640.1:c.2607A>G	NP_001180569.1:p.Arg869=
NM_001257965.1:c.2871A>G	NP_001244894.1:p.Arg957=
NM_001257966.1:c.2129-794A>G	NP_001244895.1:n.2129-794A>G
NM_201253.2:c.2943A>G	NP_957705.1:p.Arg981=
NR_047563.1:n.2944A>G
NR_047564.1:n.3152A>G
XM_011509365.1:c.2943A>G	XP_011507667.1:p.Arg981=
XM_011509366.1:c.2943A>G	XP_011507668.1:p.Arg981=
XM_011509367.1:c.2943A>G	XP_011507669.1:p.Arg981=
XM_011509368.1:c.2361A>G	XP_011507670.1:p.Arg787=
XM_011509369.1:c.1386A>G	XP_011507671.1:p.Arg462=
XM_011509365.2:c.2943A>G	XP_011507667.1:p.Arg981=
XM_011509369.2:c.1386A>G	XP_011507671.1:p.Arg462=
XM_017000851.1:c.2100A>G	XP_016856340.1:p.Arg700=
XM_017000852.1:c.3078A>G	XP_016856341.1:p.Arg1026=
NM_201253.3:c.2943A>G MANE Select	NP_957705.1:p.Arg981=
NM_001193640.2:c.2607A>G	NP_001180569.1:p.Arg869=
NM_001257965.2:c.2871A>G	NP_001244894.1:p.Arg957=
NR_047563.2:n.2896A>G
NR_047564.2:n.3104A>G
NM_001257966.2:c.2129-794A>G	NP_001244895.1:n.2129-794A>G