Canonical Allele Identifier: CA344050341

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435530T>A , CM000663.2:g.197435530T>A	GRCh38
NC_000001.10:g.197404660T>A , CM000663.1:g.197404660T>A	GRCh37
NC_000001.9:g.195671283T>A	NCBI36
NG_008483.1:g.172253T>A
NG_008483.2:g.239069T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3667T>A MANE Select	NP_957705.1:p.Cys1223Ser
ENST00000367400.8:c.3667T>A MANE Select	ENSP00000356370.3:p.Cys1223Ser
NM_001193640.1:c.3331T>A	NP_001180569.1:p.Cys1111Ser
NM_001193640.2:c.3331T>A	NP_001180569.1:p.Cys1111Ser
NM_001257965.1:c.3595T>A	NP_001244894.1:p.Cys1199Ser
NM_001257965.2:c.3595T>A	NP_001244894.1:p.Cys1199Ser
NM_001257966.1:c.2129-70T>A	NP_001244895.1:n.2129-70T>A
NM_001257966.2:c.2129-70T>A	NP_001244895.1:n.2129-70T>A
NM_201253.2:c.3667T>A	NP_957705.1:p.Cys1223Ser
NR_047563.1:n.3668T>A
NR_047563.2:n.3620T>A
NR_047564.1:n.3876T>A
NR_047564.2:n.3828T>A
ENST00000367397.1:c.1810T>A	ENSP00000356367.1:p.Cys604Ser
ENST00000367399.6:c.3331T>A	ENSP00000356369.2:p.Cys1111Ser
ENST00000367400.7:c.3667T>A	ENSP00000356370.3:p.Cys1223Ser
ENST00000484075.5:c.3667T>A	ENSP00000433932.1:p.Cys1223Ser
ENST00000535699.5:c.3595T>A	ENSP00000438786.1:p.Cys1199Ser
ENST00000538660.5:c.2129-70T>A	ENSP00000438091.1:n.2129-70T>A
ENST00000638467.1:c.3667T>A	ENSP00000491102.1:p.Cys1223Ser
ENST00000681519.1:c.2548T>A	ENSP00000505267.1:p.Cys850Ser
XM_011509365.1:c.3667T>A	XP_011507667.1:p.Cys1223Ser
XM_011509365.2:c.3667T>A	XP_011507667.1:p.Cys1223Ser
XM_011509366.1:c.3667T>A	XP_011507668.1:p.Cys1223Ser
XM_011509367.1:c.3667T>A	XP_011507669.1:p.Cys1223Ser
XM_011509368.1:c.3085T>A	XP_011507670.1:p.Cys1029Ser
XM_011509369.1:c.2110T>A	XP_011507671.1:p.Cys704Ser
XM_011509369.2:c.2110T>A	XP_011507671.1:p.Cys704Ser
XM_017000851.1:c.2824T>A	XP_016856340.1:p.Cys942Ser
XM_017000852.1:c.3802T>A	XP_016856341.1:p.Cys1268Ser