Canonical Allele Identifier: CA344036819

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427577T>A , CM000663.2:g.197427577T>A	GRCh38
NC_000001.10:g.197396707T>A , CM000663.1:g.197396707T>A	GRCh37
NC_000001.9:g.195663330T>A	NCBI36
NG_008483.1:g.164300T>A
NG_008483.2:g.231116T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2252T>A MANE Select	NP_957705.1:p.Leu751Ter
ENST00000367400.8:c.2252T>A MANE Select	ENSP00000356370.3:p.Leu751Ter
NM_001193640.1:c.1916T>A	NP_001180569.1:p.Leu639Ter
NM_001193640.2:c.1916T>A	NP_001180569.1:p.Leu639Ter
NM_001257965.1:c.2045T>A	NP_001244894.1:p.Leu682Ter
NM_001257965.2:c.2045T>A	NP_001244894.1:p.Leu682Ter
NM_001257966.1:c.2128+5621T>A	NP_001244895.1:n.2128+5621T>A
NM_001257966.2:c.2128+5621T>A	NP_001244895.1:n.2128+5621T>A
NM_201253.2:c.2252T>A	NP_957705.1:p.Leu751Ter
NR_047563.1:n.2253T>A
NR_047563.2:n.2205T>A
NR_047564.1:n.2461T>A
NR_047564.2:n.2413T>A
ENST00000367397.1:c.395T>A	ENSP00000356367.1:p.Leu132Ter
ENST00000367399.6:c.1916T>A	ENSP00000356369.2:p.Leu639Ter
ENST00000367400.7:c.2252T>A	ENSP00000356370.3:p.Leu751Ter
ENST00000480086.2:n.153T>A
ENST00000484075.5:c.2252T>A	ENSP00000433932.1:p.Leu751Ter
ENST00000535699.5:c.2045T>A	ENSP00000438786.1:p.Leu682Ter
ENST00000538660.5:c.2128+5621T>A	ENSP00000438091.1:n.2128+5621T>A
ENST00000638467.1:c.2252T>A	ENSP00000491102.1:p.Leu751Ter
ENST00000681519.1:c.1133T>A	ENSP00000505267.1:p.Leu378Ter
XM_011509365.1:c.2252T>A	XP_011507667.1:p.Leu751Ter
XM_011509365.2:c.2252T>A	XP_011507667.1:p.Leu751Ter
XM_011509366.1:c.2252T>A	XP_011507668.1:p.Leu751Ter
XM_011509367.1:c.2252T>A	XP_011507669.1:p.Leu751Ter
XM_011509368.1:c.1670T>A	XP_011507670.1:p.Leu557Ter
XM_011509369.1:c.695T>A	XP_011507671.1:p.Leu232Ter
XM_011509369.2:c.695T>A	XP_011507671.1:p.Leu232Ter
XM_017000851.1:c.1409T>A	XP_016856340.1:p.Leu470Ter
XM_017000852.1:c.2252T>A	XP_016856341.1:p.Leu751Ter