Canonical Allele Identifier: CA344035456

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477691-T-C
• MyVariant Identifiers: chr1:g.197446821T>C (hg19) ; chr1:g.197477691T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477691T>C , CM000663.2:g.197477691T>C	GRCh38
NC_000001.10:g.197446821T>C , CM000663.1:g.197446821T>C	GRCh37
NC_000001.9:g.195713444T>C	NCBI36
NG_008483.1:g.214414T>C
NG_008483.2:g.281230T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4033T>C MANE Select	ENSP00000356370.3:p.Phe1345Leu
ENST00000367399.6:c.3697T>C	ENSP00000356369.2:p.Phe1233Leu
ENST00000367400.7:c.4033T>C	ENSP00000356370.3:p.Phe1345Leu
ENST00000448952.1:c.267T>C	ENSP00000395407.1:n.267T>C
ENST00000484075.5:c.*144T>C	ENSP00000433932.1:n.*144T>C
ENST00000535699.5:c.3961T>C	ENSP00000438786.1:p.Phe1321Leu
ENST00000538660.5:c.2425T>C	ENSP00000438091.1:p.Phe809Leu
NM_001193640.1:c.3697T>C	NP_001180569.1:p.Phe1233Leu
NM_001257965.1:c.3961T>C	NP_001244894.1:p.Phe1321Leu
NM_001257966.1:c.2425T>C	NP_001244895.1:p.Phe809Leu
NM_201253.2:c.4033T>C	NP_957705.1:p.Phe1345Leu
NR_047563.1:n.4034T>C
NR_047564.1:n.4484T>C
XM_011509366.1:c.*138T>C	XP_011507668.1:n.*138T>C
XM_011509367.1:c.*12T>C	XP_011507669.1:n.*12T>C
XM_011509368.1:c.3451T>C	XP_011507670.1:p.Phe1151Leu
XM_011509369.1:c.2476T>C	XP_011507671.1:p.Phe826Leu
XM_011509369.2:c.2476T>C	XP_011507671.1:p.Phe826Leu
XM_017000851.1:c.3190T>C	XP_016856340.1:p.Phe1064Leu
XM_017000852.1:c.4168T>C	XP_016856341.1:p.Phe1390Leu
NM_201253.3:c.4033T>C MANE Select	NP_957705.1:p.Phe1345Leu
NM_001193640.2:c.3697T>C	NP_001180569.1:p.Phe1233Leu
NM_001257965.2:c.3961T>C	NP_001244894.1:p.Phe1321Leu
NR_047563.2:n.3986T>C
NR_047564.2:n.4436T>C
NM_001257966.2:c.2425T>C	NP_001244895.1:p.Phe809Leu