Canonical Allele Identifier: CA422808588

Gene: CRB1

Linked Data

• ClinVar Variation Id: 876258
• ClinVar RCV Id: RCV001100836 ; RCV001101090 ; RCV001101091 ; RCV001443187
• dbSNP Id: rs1413323140
• gnomAD v2: 1-197390836-T-C
• gnomAD v3: 1-197421706-T-C
• gnomAD v4: 1-197421706-T-C
• MyVariant Identifiers: chr1:g.197390836T>C (hg19) ; chr1:g.197421706T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421706T>C , CM000663.2:g.197421706T>C	GRCh38
NC_000001.10:g.197390836T>C , CM000663.1:g.197390836T>C	GRCh37
NC_000001.9:g.195657459T>C	NCBI36
NG_008483.1:g.158429T>C
NG_008483.2:g.225245T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1878T>C MANE Select	ENSP00000356370.3:p.Ala626=
ENST00000638467.1:c.1878T>C	ENSP00000491102.1:p.Ala626=
ENST00000681519.1:c.759T>C	ENSP00000505267.1:p.Ala253=
ENST00000367397.1:c.21T>C	ENSP00000356367.1:p.Ala7=
ENST00000367399.6:c.1542T>C	ENSP00000356369.2:p.Ala514=
ENST00000367400.7:c.1878T>C	ENSP00000356370.3:p.Ala626=
ENST00000484075.5:c.1878T>C	ENSP00000433932.1:p.Ala626=
ENST00000535699.5:c.1671T>C	ENSP00000438786.1:p.Ala557=
ENST00000538660.5:c.1878T>C	ENSP00000438091.1:p.Ala626=
NM_001193640.1:c.1542T>C	NP_001180569.1:p.Ala514=
NM_001257965.1:c.1671T>C	NP_001244894.1:p.Ala557=
NM_001257966.1:c.1878T>C	NP_001244895.1:p.Ala626=
NM_201253.2:c.1878T>C	NP_957705.1:p.Ala626=
NR_047563.1:n.1923-44T>C
NR_047564.1:n.2087T>C
XM_011509365.1:c.1878T>C	XP_011507667.1:p.Ala626=
XM_011509366.1:c.1878T>C	XP_011507668.1:p.Ala626=
XM_011509367.1:c.1878T>C	XP_011507669.1:p.Ala626=
XM_011509368.1:c.1296T>C	XP_011507670.1:p.Ala432=
XM_011509369.1:c.321T>C	XP_011507671.1:p.Ala107=
XM_011509365.2:c.1878T>C	XP_011507667.1:p.Ala626=
XM_011509369.2:c.321T>C	XP_011507671.1:p.Ala107=
XM_017000851.1:c.1035T>C	XP_016856340.1:p.Ala345=
XM_017000852.1:c.1878T>C	XP_016856341.1:p.Ala626=
NM_201253.3:c.1878T>C MANE Select	NP_957705.1:p.Ala626=
NM_001193640.2:c.1542T>C	NP_001180569.1:p.Ala514=
NM_001257965.2:c.1671T>C	NP_001244894.1:p.Ala557=
NR_047563.2:n.1875-44T>C
NR_047564.2:n.2039T>C
NM_001257966.2:c.1878T>C	NP_001244895.1:p.Ala626=