Canonical Allele Identifier: CA344035558

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477743C>A , CM000663.2:g.197477743C>A	GRCh38
NC_000001.10:g.197446873C>A , CM000663.1:g.197446873C>A	GRCh37
NC_000001.9:g.195713496C>A	NCBI36
NG_008483.1:g.214466C>A
NG_008483.2:g.281282C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.4085C>A MANE Select	NP_957705.1:p.Ala1362Asp
ENST00000367400.8:c.4085C>A MANE Select	ENSP00000356370.3:p.Ala1362Asp
NM_001193640.1:c.3749C>A	NP_001180569.1:p.Ala1250Asp
NM_001193640.2:c.3749C>A	NP_001180569.1:p.Ala1250Asp
NM_001257965.1:c.4013C>A	NP_001244894.1:p.Ala1338Asp
NM_001257965.2:c.4013C>A	NP_001244894.1:p.Ala1338Asp
NM_001257966.1:c.2477C>A	NP_001244895.1:p.Ala826Asp
NM_001257966.2:c.2477C>A	NP_001244895.1:p.Ala826Asp
NM_201253.2:c.4085C>A	NP_957705.1:p.Ala1362Asp
NR_047563.1:n.4086C>A
NR_047563.2:n.4038C>A
NR_047564.1:n.4536C>A
NR_047564.2:n.4488C>A
ENST00000367399.6:c.3749C>A	ENSP00000356369.2:p.Ala1250Asp
ENST00000367400.7:c.4085C>A	ENSP00000356370.3:p.Ala1362Asp
ENST00000448952.1:c.319C>A	ENSP00000395407.1:n.319C>A
ENST00000484075.5:c.*196C>A	ENSP00000433932.1:n.*196C>A
ENST00000535699.5:c.4013C>A	ENSP00000438786.1:p.Ala1338Asp
ENST00000538660.5:c.2477C>A	ENSP00000438091.1:p.Ala826Asp
XM_011509366.1:c.*190C>A	XP_011507668.1:n.*190C>A
XM_011509367.1:c.*64C>A	XP_011507669.1:n.*64C>A
XM_011509368.1:c.3503C>A	XP_011507670.1:p.Ala1168Asp
XM_011509369.1:c.2528C>A	XP_011507671.1:p.Ala843Asp
XM_011509369.2:c.2528C>A	XP_011507671.1:p.Ala843Asp
XM_017000851.1:c.3242C>A	XP_016856340.1:p.Ala1081Asp
XM_017000852.1:c.4220C>A	XP_016856341.1:p.Ala1407Asp