Canonical Allele Identifier: CA344084630

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197356989T>C , CM000663.2:g.197356989T>C	GRCh38
NC_000001.10:g.197326119T>C , CM000663.1:g.197326119T>C	GRCh37
NC_000001.9:g.195592742T>C	NCBI36
NG_008483.1:g.93712T>C
NG_008483.2:g.160528T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.1147T>C MANE Select	NP_957705.1:p.Cys383Arg
ENST00000367400.8:c.1147T>C MANE Select	ENSP00000356370.3:p.Cys383Arg
NM_001193640.1:c.811T>C	NP_001180569.1:p.Cys271Arg
NM_001193640.2:c.811T>C	NP_001180569.1:p.Cys271Arg
NM_001257965.1:c.940T>C	NP_001244894.1:p.Cys314Arg
NM_001257965.2:c.940T>C	NP_001244894.1:p.Cys314Arg
NM_001257966.1:c.1147T>C	NP_001244895.1:p.Cys383Arg
NM_001257966.2:c.1147T>C	NP_001244895.1:p.Cys383Arg
NM_201253.2:c.1147T>C	NP_957705.1:p.Cys383Arg
NR_047563.1:n.1356T>C
NR_047563.2:n.1308T>C
NR_047564.1:n.1356T>C
NR_047564.2:n.1308T>C
ENST00000367399.6:c.811T>C	ENSP00000356369.2:p.Cys271Arg
ENST00000367400.7:c.1147T>C	ENSP00000356370.3:p.Cys383Arg
ENST00000475659.1:n.1284T>C
ENST00000484075.5:c.1147T>C	ENSP00000433932.1:p.Cys383Arg
ENST00000535699.5:c.940T>C	ENSP00000438786.1:p.Cys314Arg
ENST00000538660.5:c.1147T>C	ENSP00000438091.1:p.Cys383Arg
ENST00000638467.1:c.1147T>C	ENSP00000491102.1:p.Cys383Arg
XM_011509365.1:c.1147T>C	XP_011507667.1:p.Cys383Arg
XM_011509365.2:c.1147T>C	XP_011507667.1:p.Cys383Arg
XM_011509366.1:c.1147T>C	XP_011507668.1:p.Cys383Arg
XM_011509367.1:c.1147T>C	XP_011507669.1:p.Cys383Arg
XM_011509368.1:c.565T>C	XP_011507670.1:p.Cys189Arg
XM_017000851.1:c.304T>C	XP_016856340.1:p.Cys102Arg
XM_017000852.1:c.1147T>C	XP_016856341.1:p.Cys383Arg