Canonical Allele Identifier: CA344047634

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404402T>C (hg19) ; chr1:g.197435272T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435272T>C , CM000663.2:g.197435272T>C	GRCh38
NC_000001.10:g.197404402T>C , CM000663.1:g.197404402T>C	GRCh37
NC_000001.9:g.195671025T>C	NCBI36
NG_008483.1:g.171995T>C
NG_008483.2:g.238811T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3409T>C MANE Select	ENSP00000356370.3:p.Cys1137Arg
ENST00000638467.1:c.3409T>C	ENSP00000491102.1:p.Cys1137Arg
ENST00000681519.1:c.2290T>C	ENSP00000505267.1:p.Cys764Arg
ENST00000367397.1:c.1552T>C	ENSP00000356367.1:p.Cys518Arg
ENST00000367399.6:c.3073T>C	ENSP00000356369.2:p.Cys1025Arg
ENST00000367400.7:c.3409T>C	ENSP00000356370.3:p.Cys1137Arg
ENST00000484075.5:c.3409T>C	ENSP00000433932.1:p.Cys1137Arg
ENST00000535699.5:c.3337T>C	ENSP00000438786.1:p.Cys1113Arg
ENST00000538660.5:c.2129-328T>C	ENSP00000438091.1:n.2129-328T>C
NM_001193640.1:c.3073T>C	NP_001180569.1:p.Cys1025Arg
NM_001257965.1:c.3337T>C	NP_001244894.1:p.Cys1113Arg
NM_001257966.1:c.2129-328T>C	NP_001244895.1:n.2129-328T>C
NM_201253.2:c.3409T>C	NP_957705.1:p.Cys1137Arg
NR_047563.1:n.3410T>C
NR_047564.1:n.3618T>C
XM_011509365.1:c.3409T>C	XP_011507667.1:p.Cys1137Arg
XM_011509366.1:c.3409T>C	XP_011507668.1:p.Cys1137Arg
XM_011509367.1:c.3409T>C	XP_011507669.1:p.Cys1137Arg
XM_011509368.1:c.2827T>C	XP_011507670.1:p.Cys943Arg
XM_011509369.1:c.1852T>C	XP_011507671.1:p.Cys618Arg
XM_011509365.2:c.3409T>C	XP_011507667.1:p.Cys1137Arg
XM_011509369.2:c.1852T>C	XP_011507671.1:p.Cys618Arg
XM_017000851.1:c.2566T>C	XP_016856340.1:p.Cys856Arg
XM_017000852.1:c.3544T>C	XP_016856341.1:p.Cys1182Arg
NM_201253.3:c.3409T>C MANE Select	NP_957705.1:p.Cys1137Arg
NM_001193640.2:c.3073T>C	NP_001180569.1:p.Cys1025Arg
NM_001257965.2:c.3337T>C	NP_001244894.1:p.Cys1113Arg
NR_047563.2:n.3362T>C
NR_047564.2:n.3570T>C
NM_001257966.2:c.2129-328T>C	NP_001244895.1:n.2129-328T>C