Canonical Allele Identifier: CA344048359

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435358T>A , CM000663.2:g.197435358T>A	GRCh38
NC_000001.10:g.197404488T>A , CM000663.1:g.197404488T>A	GRCh37
NC_000001.9:g.195671111T>A	NCBI36
NG_008483.1:g.172081T>A
NG_008483.2:g.238897T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3495T>A MANE Select	NP_957705.1:p.Cys1165Ter
ENST00000367400.8:c.3495T>A MANE Select	ENSP00000356370.3:p.Cys1165Ter
NM_001193640.1:c.3159T>A	NP_001180569.1:p.Cys1053Ter
NM_001193640.2:c.3159T>A	NP_001180569.1:p.Cys1053Ter
NM_001257965.1:c.3423T>A	NP_001244894.1:p.Cys1141Ter
NM_001257965.2:c.3423T>A	NP_001244894.1:p.Cys1141Ter
NM_001257966.1:c.2129-242T>A	NP_001244895.1:n.2129-242T>A
NM_001257966.2:c.2129-242T>A	NP_001244895.1:n.2129-242T>A
NM_201253.2:c.3495T>A	NP_957705.1:p.Cys1165Ter
NR_047563.1:n.3496T>A
NR_047563.2:n.3448T>A
NR_047564.1:n.3704T>A
NR_047564.2:n.3656T>A
ENST00000367397.1:c.1638T>A	ENSP00000356367.1:p.Cys546Ter
ENST00000367399.6:c.3159T>A	ENSP00000356369.2:p.Cys1053Ter
ENST00000367400.7:c.3495T>A	ENSP00000356370.3:p.Cys1165Ter
ENST00000484075.5:c.3495T>A	ENSP00000433932.1:p.Cys1165Ter
ENST00000535699.5:c.3423T>A	ENSP00000438786.1:p.Cys1141Ter
ENST00000538660.5:c.2129-242T>A	ENSP00000438091.1:n.2129-242T>A
ENST00000638467.1:c.3495T>A	ENSP00000491102.1:p.Cys1165Ter
ENST00000681519.1:c.2376T>A	ENSP00000505267.1:p.Cys792Ter
XM_011509365.1:c.3495T>A	XP_011507667.1:p.Cys1165Ter
XM_011509365.2:c.3495T>A	XP_011507667.1:p.Cys1165Ter
XM_011509366.1:c.3495T>A	XP_011507668.1:p.Cys1165Ter
XM_011509367.1:c.3495T>A	XP_011507669.1:p.Cys1165Ter
XM_011509368.1:c.2913T>A	XP_011507670.1:p.Cys971Ter
XM_011509369.1:c.1938T>A	XP_011507671.1:p.Cys646Ter
XM_011509369.2:c.1938T>A	XP_011507671.1:p.Cys646Ter
XM_017000851.1:c.2652T>A	XP_016856340.1:p.Cys884Ter
XM_017000852.1:c.3630T>A	XP_016856341.1:p.Cys1210Ter