Canonical Allele Identifier: CA344050424

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435548T>A , CM000663.2:g.197435548T>A	GRCh38
NC_000001.10:g.197404678T>A , CM000663.1:g.197404678T>A	GRCh37
NC_000001.9:g.195671301T>A	NCBI36
NG_008483.1:g.172271T>A
NG_008483.2:g.239087T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3685T>A MANE Select	NP_957705.1:p.Cys1229Ser
ENST00000367400.8:c.3685T>A MANE Select	ENSP00000356370.3:p.Cys1229Ser
NM_001193640.1:c.3349T>A	NP_001180569.1:p.Cys1117Ser
NM_001193640.2:c.3349T>A	NP_001180569.1:p.Cys1117Ser
NM_001257965.1:c.3613T>A	NP_001244894.1:p.Cys1205Ser
NM_001257965.2:c.3613T>A	NP_001244894.1:p.Cys1205Ser
NM_001257966.1:c.2129-52T>A	NP_001244895.1:n.2129-52T>A
NM_001257966.2:c.2129-52T>A	NP_001244895.1:n.2129-52T>A
NM_201253.2:c.3685T>A	NP_957705.1:p.Cys1229Ser
NR_047563.1:n.3686T>A
NR_047563.2:n.3638T>A
NR_047564.1:n.3894T>A
NR_047564.2:n.3846T>A
ENST00000367397.1:c.1828T>A	ENSP00000356367.1:p.Cys610Ser
ENST00000367399.6:c.3349T>A	ENSP00000356369.2:p.Cys1117Ser
ENST00000367400.7:c.3685T>A	ENSP00000356370.3:p.Cys1229Ser
ENST00000484075.5:c.3685T>A	ENSP00000433932.1:p.Cys1229Ser
ENST00000535699.5:c.3613T>A	ENSP00000438786.1:p.Cys1205Ser
ENST00000538660.5:c.2129-52T>A	ENSP00000438091.1:n.2129-52T>A
ENST00000638467.1:c.3685T>A	ENSP00000491102.1:p.Cys1229Ser
ENST00000681519.1:c.2566T>A	ENSP00000505267.1:p.Cys856Ser
XM_011509365.1:c.3685T>A	XP_011507667.1:p.Cys1229Ser
XM_011509365.2:c.3685T>A	XP_011507667.1:p.Cys1229Ser
XM_011509366.1:c.3685T>A	XP_011507668.1:p.Cys1229Ser
XM_011509367.1:c.3685T>A	XP_011507669.1:p.Cys1229Ser
XM_011509368.1:c.3103T>A	XP_011507670.1:p.Cys1035Ser
XM_011509369.1:c.2128T>A	XP_011507671.1:p.Cys710Ser
XM_011509369.2:c.2128T>A	XP_011507671.1:p.Cys710Ser
XM_017000851.1:c.2842T>A	XP_016856340.1:p.Cys948Ser
XM_017000852.1:c.3820T>A	XP_016856341.1:p.Cys1274Ser