Canonical Allele Identifier: CA344052722

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197442283C>A , CM000663.2:g.197442283C>A	GRCh38
NC_000001.10:g.197411413C>A , CM000663.1:g.197411413C>A	GRCh37
NC_000001.9:g.195678036C>A	NCBI36
NG_008483.1:g.179006C>A
NG_008483.2:g.245822C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3996C>A MANE Select	NP_957705.1:p.Cys1332Ter
ENST00000367400.8:c.3996C>A MANE Select	ENSP00000356370.3:p.Cys1332Ter
NM_001193640.1:c.3660C>A	NP_001180569.1:p.Cys1220Ter
NM_001193640.2:c.3660C>A	NP_001180569.1:p.Cys1220Ter
NM_001257965.1:c.3924C>A	NP_001244894.1:p.Cys1308Ter
NM_001257965.2:c.3924C>A	NP_001244894.1:p.Cys1308Ter
NM_001257966.1:c.2388C>A	NP_001244895.1:p.Cys796Ter
NM_001257966.2:c.2388C>A	NP_001244895.1:p.Cys796Ter
NM_201253.2:c.3996C>A	NP_957705.1:p.Cys1332Ter
NR_047563.1:n.3997C>A
NR_047563.2:n.3949C>A
NR_047564.1:n.4205C>A
NR_047564.2:n.4157C>A
ENST00000367397.1:c.*3604C>A	ENSP00000356367.1:n.*3604C>A
ENST00000367399.6:c.3660C>A	ENSP00000356369.2:p.Cys1220Ter
ENST00000367400.7:c.3996C>A	ENSP00000356370.3:p.Cys1332Ter
ENST00000448952.1:c.114C>A	ENSP00000395407.1:p.Cys38Ter
ENST00000484075.5:c.3996C>A	ENSP00000433932.1:p.Cys1332Ter
ENST00000535699.5:c.3924C>A	ENSP00000438786.1:p.Cys1308Ter
ENST00000538660.5:c.2388C>A	ENSP00000438091.1:p.Cys796Ter
ENST00000638467.1:c.3996C>A	ENSP00000491102.1:p.Cys1332Ter
ENST00000681519.1:c.2877C>A	ENSP00000505267.1:p.Cys959Ter
XM_011509365.1:c.3996C>A	XP_011507667.1:p.Cys1332Ter
XM_011509365.2:c.3996C>A	XP_011507667.1:p.Cys1332Ter
XM_011509366.1:c.3996C>A	XP_011507668.1:p.Cys1332Ter
XM_011509367.1:c.3878+3608C>A	XP_011507669.1:n.3878+3608C>A
XM_011509368.1:c.3414C>A	XP_011507670.1:p.Cys1138Ter
XM_011509369.1:c.2439C>A	XP_011507671.1:p.Cys813Ter
XM_011509369.2:c.2439C>A	XP_011507671.1:p.Cys813Ter
XM_017000851.1:c.3153C>A	XP_016856340.1:p.Cys1051Ter
XM_017000852.1:c.4131C>A	XP_016856341.1:p.Cys1377Ter