Canonical Allele Identifier: CA344085810

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197328805T>C , CM000663.2:g.197328805T>C	GRCh38
NC_000001.10:g.197297935T>C , CM000663.1:g.197297935T>C	GRCh37
NC_000001.9:g.195564558T>C	NCBI36
NG_008483.1:g.65528T>C
NG_008483.2:g.132344T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.454T>C MANE Select	NP_957705.1:p.Cys152Arg
ENST00000367400.8:c.454T>C MANE Select	ENSP00000356370.3:p.Cys152Arg
NM_001193640.1:c.454T>C	NP_001180569.1:p.Cys152Arg
NM_001193640.2:c.454T>C	NP_001180569.1:p.Cys152Arg
NM_001257965.1:c.247T>C	NP_001244894.1:p.Cys83Arg
NM_001257965.2:c.247T>C	NP_001244894.1:p.Cys83Arg
NM_001257966.1:c.454T>C	NP_001244895.1:p.Cys152Arg
NM_001257966.2:c.454T>C	NP_001244895.1:p.Cys152Arg
NM_201253.2:c.454T>C	NP_957705.1:p.Cys152Arg
NR_047563.1:n.663T>C
NR_047563.2:n.615T>C
NR_047564.1:n.663T>C
NR_047564.2:n.615T>C
ENST00000367399.6:c.454T>C	ENSP00000356369.2:p.Cys152Arg
ENST00000367400.7:c.454T>C	ENSP00000356370.3:p.Cys152Arg
ENST00000475659.1:n.591T>C
ENST00000484075.5:c.454T>C	ENSP00000433932.1:p.Cys152Arg
ENST00000535699.5:c.247T>C	ENSP00000438786.1:p.Cys83Arg
ENST00000538660.5:c.454T>C	ENSP00000438091.1:p.Cys152Arg
ENST00000638467.1:c.454T>C	ENSP00000491102.1:p.Cys152Arg
XM_011509365.1:c.454T>C	XP_011507667.1:p.Cys152Arg
XM_011509365.2:c.454T>C	XP_011507667.1:p.Cys152Arg
XM_011509366.1:c.454T>C	XP_011507668.1:p.Cys152Arg
XM_011509367.1:c.454T>C	XP_011507669.1:p.Cys152Arg
XM_011509368.1:c.71-15476T>C	XP_011507670.1:n.71-15476T>C
XM_017000851.1:c.-250T>C	XP_016856340.1:n.-250T>C
XM_017000852.1:c.454T>C	XP_016856341.1:p.Cys152Arg