Canonical Allele Identifier: CA344050438

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435550C>A , CM000663.2:g.197435550C>A	GRCh38
NC_000001.10:g.197404680C>A , CM000663.1:g.197404680C>A	GRCh37
NC_000001.9:g.195671303C>A	NCBI36
NG_008483.1:g.172273C>A
NG_008483.2:g.239089C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3687C>A MANE Select	NP_957705.1:p.Cys1229Ter
ENST00000367400.8:c.3687C>A MANE Select	ENSP00000356370.3:p.Cys1229Ter
NM_001193640.1:c.3351C>A	NP_001180569.1:p.Cys1117Ter
NM_001193640.2:c.3351C>A	NP_001180569.1:p.Cys1117Ter
NM_001257965.1:c.3615C>A	NP_001244894.1:p.Cys1205Ter
NM_001257965.2:c.3615C>A	NP_001244894.1:p.Cys1205Ter
NM_001257966.1:c.2129-50C>A	NP_001244895.1:n.2129-50C>A
NM_001257966.2:c.2129-50C>A	NP_001244895.1:n.2129-50C>A
NM_201253.2:c.3687C>A	NP_957705.1:p.Cys1229Ter
NR_047563.1:n.3688C>A
NR_047563.2:n.3640C>A
NR_047564.1:n.3896C>A
NR_047564.2:n.3848C>A
ENST00000367397.1:c.1830C>A	ENSP00000356367.1:p.Cys610Ter
ENST00000367399.6:c.3351C>A	ENSP00000356369.2:p.Cys1117Ter
ENST00000367400.7:c.3687C>A	ENSP00000356370.3:p.Cys1229Ter
ENST00000484075.5:c.3687C>A	ENSP00000433932.1:p.Cys1229Ter
ENST00000535699.5:c.3615C>A	ENSP00000438786.1:p.Cys1205Ter
ENST00000538660.5:c.2129-50C>A	ENSP00000438091.1:n.2129-50C>A
ENST00000638467.1:c.3687C>A	ENSP00000491102.1:p.Cys1229Ter
ENST00000681519.1:c.2568C>A	ENSP00000505267.1:p.Cys856Ter
XM_011509365.1:c.3687C>A	XP_011507667.1:p.Cys1229Ter
XM_011509365.2:c.3687C>A	XP_011507667.1:p.Cys1229Ter
XM_011509366.1:c.3687C>A	XP_011507668.1:p.Cys1229Ter
XM_011509367.1:c.3687C>A	XP_011507669.1:p.Cys1229Ter
XM_011509368.1:c.3105C>A	XP_011507670.1:p.Cys1035Ter
XM_011509369.1:c.2130C>A	XP_011507671.1:p.Cys710Ter
XM_011509369.2:c.2130C>A	XP_011507671.1:p.Cys710Ter
XM_017000851.1:c.2844C>A	XP_016856340.1:p.Cys948Ter
XM_017000852.1:c.3822C>A	XP_016856341.1:p.Cys1274Ter