Canonical Allele Identifier: CA344041301

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429587T>C , CM000663.2:g.197429587T>C	GRCh38
NC_000001.10:g.197398717T>C , CM000663.1:g.197398717T>C	GRCh37
NC_000001.9:g.195665340T>C	NCBI36
NG_008483.1:g.166310T>C
NG_008483.2:g.233126T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2815T>C MANE Select	NP_957705.1:p.Cys939Arg
ENST00000367400.8:c.2815T>C MANE Select	ENSP00000356370.3:p.Cys939Arg
NM_001193640.1:c.2479T>C	NP_001180569.1:p.Cys827Arg
NM_001193640.2:c.2479T>C	NP_001180569.1:p.Cys827Arg
NM_001257965.1:c.2743T>C	NP_001244894.1:p.Cys915Arg
NM_001257965.2:c.2743T>C	NP_001244894.1:p.Cys915Arg
NM_001257966.1:c.2129-6013T>C	NP_001244895.1:n.2129-6013T>C
NM_001257966.2:c.2129-6013T>C	NP_001244895.1:n.2129-6013T>C
NM_201253.2:c.2815T>C	NP_957705.1:p.Cys939Arg
NR_047563.1:n.2816T>C
NR_047563.2:n.2768T>C
NR_047564.1:n.3024T>C
NR_047564.2:n.2976T>C
ENST00000367397.1:c.958T>C	ENSP00000356367.1:p.Cys320Arg
ENST00000367399.6:c.2479T>C	ENSP00000356369.2:p.Cys827Arg
ENST00000367400.7:c.2815T>C	ENSP00000356370.3:p.Cys939Arg
ENST00000484075.5:c.2815T>C	ENSP00000433932.1:p.Cys939Arg
ENST00000535699.5:c.2743T>C	ENSP00000438786.1:p.Cys915Arg
ENST00000538660.5:c.2129-6013T>C	ENSP00000438091.1:n.2129-6013T>C
ENST00000638467.1:c.2815T>C	ENSP00000491102.1:p.Cys939Arg
ENST00000681519.1:c.1696T>C	ENSP00000505267.1:p.Cys566Arg
XM_011509365.1:c.2815T>C	XP_011507667.1:p.Cys939Arg
XM_011509365.2:c.2815T>C	XP_011507667.1:p.Cys939Arg
XM_011509366.1:c.2815T>C	XP_011507668.1:p.Cys939Arg
XM_011509367.1:c.2815T>C	XP_011507669.1:p.Cys939Arg
XM_011509368.1:c.2233T>C	XP_011507670.1:p.Cys745Arg
XM_011509369.1:c.1258T>C	XP_011507671.1:p.Cys420Arg
XM_011509369.2:c.1258T>C	XP_011507671.1:p.Cys420Arg
XM_017000851.1:c.1972T>C	XP_016856340.1:p.Cys658Arg
XM_017000852.1:c.2950T>C	XP_016856341.1:p.Cys984Arg