Canonical Allele Identifier: CA344034101

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421915G>A , CM000663.2:g.197421915G>A	GRCh38
NC_000001.10:g.197391045G>A , CM000663.1:g.197391045G>A	GRCh37
NC_000001.9:g.195657668G>A	NCBI36
NG_008483.1:g.158638G>A
NG_008483.2:g.225454G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2087G>A MANE Select	NP_957705.1:p.Cys696Tyr
ENST00000367400.8:c.2087G>A MANE Select	ENSP00000356370.3:p.Cys696Tyr
NM_001193640.1:c.1751G>A	NP_001180569.1:p.Cys584Tyr
NM_001193640.2:c.1751G>A	NP_001180569.1:p.Cys584Tyr
NM_001257965.1:c.1880G>A	NP_001244894.1:p.Cys627Tyr
NM_001257965.2:c.1880G>A	NP_001244894.1:p.Cys627Tyr
NM_001257966.1:c.2087G>A	NP_001244895.1:p.Cys696Tyr
NM_001257966.2:c.2087G>A	NP_001244895.1:p.Cys696Tyr
NM_201253.2:c.2087G>A	NP_957705.1:p.Cys696Tyr
NR_047563.1:n.2088G>A
NR_047563.2:n.2040G>A
NR_047564.1:n.2296G>A
NR_047564.2:n.2248G>A
ENST00000367397.1:c.230G>A	ENSP00000356367.1:p.Cys77Tyr
ENST00000367399.6:c.1751G>A	ENSP00000356369.2:p.Cys584Tyr
ENST00000367400.7:c.2087G>A	ENSP00000356370.3:p.Cys696Tyr
ENST00000484075.5:c.2087G>A	ENSP00000433932.1:p.Cys696Tyr
ENST00000535699.5:c.1880G>A	ENSP00000438786.1:p.Cys627Tyr
ENST00000538660.5:c.2087G>A	ENSP00000438091.1:p.Cys696Tyr
ENST00000638467.1:c.2087G>A	ENSP00000491102.1:p.Cys696Tyr
ENST00000681519.1:c.968G>A	ENSP00000505267.1:p.Cys323Tyr
XM_011509365.1:c.2087G>A	XP_011507667.1:p.Cys696Tyr
XM_011509365.2:c.2087G>A	XP_011507667.1:p.Cys696Tyr
XM_011509366.1:c.2087G>A	XP_011507668.1:p.Cys696Tyr
XM_011509367.1:c.2087G>A	XP_011507669.1:p.Cys696Tyr
XM_011509368.1:c.1505G>A	XP_011507670.1:p.Cys502Tyr
XM_011509369.1:c.530G>A	XP_011507671.1:p.Cys177Tyr
XM_011509369.2:c.530G>A	XP_011507671.1:p.Cys177Tyr
XM_017000851.1:c.1244G>A	XP_016856340.1:p.Cys415Tyr
XM_017000852.1:c.2087G>A	XP_016856341.1:p.Cys696Tyr