Canonical Allele Identifier: CA422808787

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2939027
• ClinVar RCV Id: RCV003791753
• dbSNP Id: rs1169046915
• MyVariant Identifiers: chr1:g.197404086T>C (hg19) ; chr1:g.197434956T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434956T>C , CM000663.2:g.197434956T>C	GRCh38
NC_000001.10:g.197404086T>C , CM000663.1:g.197404086T>C	GRCh37
NC_000001.9:g.195670709T>C	NCBI36
NG_008483.1:g.171679T>C
NG_008483.2:g.238495T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3093T>C MANE Select	ENSP00000356370.3:p.Asp1031=
ENST00000638467.1:c.3093T>C	ENSP00000491102.1:p.Asp1031=
ENST00000681519.1:c.1974T>C	ENSP00000505267.1:p.Asp658=
ENST00000367397.1:c.1236T>C	ENSP00000356367.1:p.Asp412=
ENST00000367399.6:c.2757T>C	ENSP00000356369.2:p.Asp919=
ENST00000367400.7:c.3093T>C	ENSP00000356370.3:p.Asp1031=
ENST00000484075.5:c.3093T>C	ENSP00000433932.1:p.Asp1031=
ENST00000535699.5:c.3021T>C	ENSP00000438786.1:p.Asp1007=
ENST00000538660.5:c.2129-644T>C	ENSP00000438091.1:n.2129-644T>C
NM_001193640.1:c.2757T>C	NP_001180569.1:p.Asp919=
NM_001257965.1:c.3021T>C	NP_001244894.1:p.Asp1007=
NM_001257966.1:c.2129-644T>C	NP_001244895.1:n.2129-644T>C
NM_201253.2:c.3093T>C	NP_957705.1:p.Asp1031=
NR_047563.1:n.3094T>C
NR_047564.1:n.3302T>C
XM_011509365.1:c.3093T>C	XP_011507667.1:p.Asp1031=
XM_011509366.1:c.3093T>C	XP_011507668.1:p.Asp1031=
XM_011509367.1:c.3093T>C	XP_011507669.1:p.Asp1031=
XM_011509368.1:c.2511T>C	XP_011507670.1:p.Asp837=
XM_011509369.1:c.1536T>C	XP_011507671.1:p.Asp512=
XM_011509365.2:c.3093T>C	XP_011507667.1:p.Asp1031=
XM_011509369.2:c.1536T>C	XP_011507671.1:p.Asp512=
XM_017000851.1:c.2250T>C	XP_016856340.1:p.Asp750=
XM_017000852.1:c.3228T>C	XP_016856341.1:p.Asp1076=
NM_201253.3:c.3093T>C MANE Select	NP_957705.1:p.Asp1031=
NM_001193640.2:c.2757T>C	NP_001180569.1:p.Asp919=
NM_001257965.2:c.3021T>C	NP_001244894.1:p.Asp1007=
NR_047563.2:n.3046T>C
NR_047564.2:n.3254T>C
NM_001257966.2:c.2129-644T>C	NP_001244895.1:n.2129-644T>C