Canonical Allele Identifier: CA228001

Gene: CRB1

Linked Data

• ClinVar Variation Id: 99875
• ClinVar RCV Id: RCV000086313 ; RCV001250598 ; RCV003764800
• dbSNP Id: rs62645755
• MyVariant Identifiers: chr1:g.197391086G>C (hg19) ; chr1:g.197421956G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421956G>C , CM000663.2:g.197421956G>C	GRCh38
NC_000001.10:g.197391086G>C , CM000663.1:g.197391086G>C	GRCh37
NC_000001.9:g.195657709G>C	NCBI36
NG_008483.1:g.158679G>C
NG_008483.2:g.225495G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2128G>C MANE Select	ENSP00000356370.3:p.Glu710Gln
ENST00000638467.1:c.2128G>C	ENSP00000491102.1:p.Glu710Gln
ENST00000681519.1:c.1009G>C	ENSP00000505267.1:p.Glu337Gln
ENST00000367397.1:c.271G>C	ENSP00000356367.1:p.Glu91Gln
ENST00000367399.6:c.1792G>C	ENSP00000356369.2:p.Glu598Gln
ENST00000367400.7:c.2128G>C	ENSP00000356370.3:p.Glu710Gln
ENST00000484075.5:c.2128G>C	ENSP00000433932.1:p.Glu710Gln
ENST00000535699.5:c.1921G>C	ENSP00000438786.1:p.Glu641Gln
ENST00000538660.5:c.2128G>C	ENSP00000438091.1:p.Gly710Arg
NM_001193640.1:c.1792G>C	NP_001180569.1:p.Glu598Gln
NM_001257965.1:c.1921G>C	NP_001244894.1:p.Glu641Gln
NM_001257966.1:c.2128G>C	NP_001244895.1:p.Gly710Arg
NM_201253.2:c.2128G>C	NP_957705.1:p.Glu710Gln
NR_047563.1:n.2129G>C
NR_047564.1:n.2337G>C
XM_011509365.1:c.2128G>C	XP_011507667.1:p.Glu710Gln
XM_011509366.1:c.2128G>C	XP_011507668.1:p.Glu710Gln
XM_011509367.1:c.2128G>C	XP_011507669.1:p.Glu710Gln
XM_011509368.1:c.1546G>C	XP_011507670.1:p.Glu516Gln
XM_011509369.1:c.571G>C	XP_011507671.1:p.Glu191Gln
XM_011509365.2:c.2128G>C	XP_011507667.1:p.Glu710Gln
XM_011509369.2:c.571G>C	XP_011507671.1:p.Glu191Gln
XM_017000851.1:c.1285G>C	XP_016856340.1:p.Glu429Gln
XM_017000852.1:c.2128G>C	XP_016856341.1:p.Glu710Gln
NM_201253.3:c.2128G>C MANE Select	NP_957705.1:p.Glu710Gln
NM_001193640.2:c.1792G>C	NP_001180569.1:p.Glu598Gln
NM_001257965.2:c.1921G>C	NP_001244894.1:p.Glu641Gln
NR_047563.2:n.2081G>C
NR_047564.2:n.2289G>C
NM_001257966.2:c.2128G>C	NP_001244895.1:p.Gly710Arg