Canonical Allele Identifier: CA344032962

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1464295
• ClinVar RCV Id: RCV001956851
• dbSNP Id: rs757884719
• gnomAD v2: 1-197390894-A-C
• gnomAD v4: 1-197421764-A-C
• MyVariant Identifiers: chr1:g.197390894A>C (hg19) ; chr1:g.197421764A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421764A>C , CM000663.2:g.197421764A>C	GRCh38
NC_000001.10:g.197390894A>C , CM000663.1:g.197390894A>C	GRCh37
NC_000001.9:g.195657517A>C	NCBI36
NG_008483.1:g.158487A>C
NG_008483.2:g.225303A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1936A>C MANE Select	ENSP00000356370.3:p.Ile646Leu
ENST00000638467.1:c.1936A>C	ENSP00000491102.1:p.Ile646Leu
ENST00000681519.1:c.817A>C	ENSP00000505267.1:p.Ile273Leu
ENST00000367397.1:c.79A>C	ENSP00000356367.1:p.Ile27Leu
ENST00000367399.6:c.1600A>C	ENSP00000356369.2:p.Ile534Leu
ENST00000367400.7:c.1936A>C	ENSP00000356370.3:p.Ile646Leu
ENST00000484075.5:c.1936A>C	ENSP00000433932.1:p.Ile646Leu
ENST00000535699.5:c.1729A>C	ENSP00000438786.1:p.Ile577Leu
ENST00000538660.5:c.1936A>C	ENSP00000438091.1:p.Ile646Leu
NM_001193640.1:c.1600A>C	NP_001180569.1:p.Ile534Leu
NM_001257965.1:c.1729A>C	NP_001244894.1:p.Ile577Leu
NM_001257966.1:c.1936A>C	NP_001244895.1:p.Ile646Leu
NM_201253.2:c.1936A>C	NP_957705.1:p.Ile646Leu
NR_047563.1:n.1937A>C
NR_047564.1:n.2145A>C
XM_011509365.1:c.1936A>C	XP_011507667.1:p.Ile646Leu
XM_011509366.1:c.1936A>C	XP_011507668.1:p.Ile646Leu
XM_011509367.1:c.1936A>C	XP_011507669.1:p.Ile646Leu
XM_011509368.1:c.1354A>C	XP_011507670.1:p.Ile452Leu
XM_011509369.1:c.379A>C	XP_011507671.1:p.Ile127Leu
XM_011509365.2:c.1936A>C	XP_011507667.1:p.Ile646Leu
XM_011509369.2:c.379A>C	XP_011507671.1:p.Ile127Leu
XM_017000851.1:c.1093A>C	XP_016856340.1:p.Ile365Leu
XM_017000852.1:c.1936A>C	XP_016856341.1:p.Ile646Leu
NM_201253.3:c.1936A>C MANE Select	NP_957705.1:p.Ile646Leu
NM_001193640.2:c.1600A>C	NP_001180569.1:p.Ile534Leu
NM_001257965.2:c.1729A>C	NP_001244894.1:p.Ile577Leu
NR_047563.2:n.1889A>C
NR_047564.2:n.2097A>C
NM_001257966.2:c.1936A>C	NP_001244895.1:p.Ile646Leu