Canonical Allele Identifier: CA344052762

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197442290G>T , CM000663.2:g.197442290G>T	GRCh38
NC_000001.10:g.197411420G>T , CM000663.1:g.197411420G>T	GRCh37
NC_000001.9:g.195678043G>T	NCBI36
NG_008483.1:g.179013G>T
NG_008483.2:g.245829G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.4003G>T MANE Select	NP_957705.1:p.Asp1335Tyr
ENST00000367400.8:c.4003G>T MANE Select	ENSP00000356370.3:p.Asp1335Tyr
NM_001193640.1:c.3667G>T	NP_001180569.1:p.Asp1223Tyr
NM_001193640.2:c.3667G>T	NP_001180569.1:p.Asp1223Tyr
NM_001257965.1:c.3931G>T	NP_001244894.1:p.Asp1311Tyr
NM_001257965.2:c.3931G>T	NP_001244894.1:p.Asp1311Tyr
NM_001257966.1:c.2395G>T	NP_001244895.1:p.Asp799Tyr
NM_001257966.2:c.2395G>T	NP_001244895.1:p.Asp799Tyr
NM_201253.2:c.4003G>T	NP_957705.1:p.Asp1335Tyr
NR_047563.1:n.4004G>T
NR_047563.2:n.3956G>T
NR_047564.1:n.4212G>T
NR_047564.2:n.4164G>T
ENST00000367397.1:c.*3611G>T	ENSP00000356367.1:n.*3611G>T
ENST00000367399.6:c.3667G>T	ENSP00000356369.2:p.Asp1223Tyr
ENST00000367400.7:c.4003G>T	ENSP00000356370.3:p.Asp1335Tyr
ENST00000448952.1:c.121G>T	ENSP00000395407.1:p.Asp41Tyr
ENST00000484075.5:c.4003G>T	ENSP00000433932.1:p.Asp1335Tyr
ENST00000535699.5:c.3931G>T	ENSP00000438786.1:p.Asp1311Tyr
ENST00000538660.5:c.2395G>T	ENSP00000438091.1:p.Asp799Tyr
ENST00000638467.1:c.4003G>T	ENSP00000491102.1:p.Asp1335Tyr
ENST00000681519.1:c.2884G>T	ENSP00000505267.1:p.Asp962Tyr
XM_011509365.1:c.4003G>T	XP_011507667.1:p.Asp1335Tyr
XM_011509365.2:c.4003G>T	XP_011507667.1:p.Asp1335Tyr
XM_011509366.1:c.4003G>T	XP_011507668.1:p.Asp1335Tyr
XM_011509367.1:c.3878+3615G>T	XP_011507669.1:n.3878+3615G>T
XM_011509368.1:c.3421G>T	XP_011507670.1:p.Asp1141Tyr
XM_011509369.1:c.2446G>T	XP_011507671.1:p.Asp816Tyr
XM_011509369.2:c.2446G>T	XP_011507671.1:p.Asp816Tyr
XM_017000851.1:c.3160G>T	XP_016856340.1:p.Asp1054Tyr
XM_017000852.1:c.4138G>T	XP_016856341.1:p.Asp1380Tyr