Canonical Allele Identifier: CA344035894

Gene: CRB1

Linked Data

• ClinVar Variation Id: 851424
• ClinVar RCV Id: RCV001055816
• dbSNP Id: rs764581378
• MyVariant Identifiers: chr1:g.197446957G>C (hg19) ; chr1:g.197477827G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477827G>C , CM000663.2:g.197477827G>C	GRCh38
NC_000001.10:g.197446957G>C , CM000663.1:g.197446957G>C	GRCh37
NC_000001.9:g.195713580G>C	NCBI36
NG_008483.1:g.214550G>C
NG_008483.2:g.281366G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4169G>C MANE Select	ENSP00000356370.3:p.Arg1390Pro
ENST00000367399.6:c.3833G>C	ENSP00000356369.2:p.Arg1278Pro
ENST00000367400.7:c.4169G>C	ENSP00000356370.3:p.Arg1390Pro
ENST00000448952.1:c.403G>C	ENSP00000395407.1:n.403G>C
ENST00000484075.5:c.*280G>C	ENSP00000433932.1:n.*280G>C
ENST00000535699.5:c.4097G>C	ENSP00000438786.1:p.Arg1366Pro
ENST00000538660.5:c.2561G>C	ENSP00000438091.1:p.Arg854Pro
NM_001193640.1:c.3833G>C	NP_001180569.1:p.Arg1278Pro
NM_001257965.1:c.4097G>C	NP_001244894.1:p.Arg1366Pro
NM_001257966.1:c.2561G>C	NP_001244895.1:p.Arg854Pro
NM_201253.2:c.4169G>C	NP_957705.1:p.Arg1390Pro
NR_047563.1:n.4170G>C
NR_047564.1:n.4620G>C
XM_011509366.1:c.*274G>C	XP_011507668.1:n.*274G>C
XM_011509367.1:c.*148G>C	XP_011507669.1:n.*148G>C
XM_011509368.1:c.3587G>C	XP_011507670.1:p.Arg1196Pro
XM_011509369.1:c.2612G>C	XP_011507671.1:p.Arg871Pro
XM_011509369.2:c.2612G>C	XP_011507671.1:p.Arg871Pro
XM_017000851.1:c.3326G>C	XP_016856340.1:p.Arg1109Pro
XM_017000852.1:c.4304G>C	XP_016856341.1:p.Arg1435Pro
NM_201253.3:c.4169G>C MANE Select	NP_957705.1:p.Arg1390Pro
NM_001193640.2:c.3833G>C	NP_001180569.1:p.Arg1278Pro
NM_001257965.2:c.4097G>C	NP_001244894.1:p.Arg1366Pro
NR_047563.2:n.4122G>C
NR_047564.2:n.4572G>C
NM_001257966.2:c.2561G>C	NP_001244895.1:p.Arg854Pro