Canonical Allele Identifier: CA344038591

Gene: CRB1

Linked Data

• dbSNP Id: rs1664683100
• gnomAD v4: 1-197427958-T-C
• MyVariant Identifiers: chr1:g.197397088T>C (hg19) ; chr1:g.197427958T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427958T>C , CM000663.2:g.197427958T>C	GRCh38
NC_000001.10:g.197397088T>C , CM000663.1:g.197397088T>C	GRCh37
NC_000001.9:g.195663711T>C	NCBI36
NG_008483.1:g.164681T>C
NG_008483.2:g.231497T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2633T>C MANE Select	ENSP00000356370.3:p.Leu878Pro
ENST00000638467.1:c.2633T>C	ENSP00000491102.1:p.Leu878Pro
ENST00000681519.1:c.1514T>C	ENSP00000505267.1:p.Leu505Pro
ENST00000367397.1:c.776T>C	ENSP00000356367.1:p.Leu259Pro
ENST00000367399.6:c.2297T>C	ENSP00000356369.2:p.Leu766Pro
ENST00000367400.7:c.2633T>C	ENSP00000356370.3:p.Leu878Pro
ENST00000484075.5:c.2633T>C	ENSP00000433932.1:p.Leu878Pro
ENST00000535699.5:c.2426T>C	ENSP00000438786.1:p.Leu809Pro
ENST00000538660.5:c.2128+6002T>C	ENSP00000438091.1:n.2128+6002T>C
NM_001193640.1:c.2297T>C	NP_001180569.1:p.Leu766Pro
NM_001257965.1:c.2426T>C	NP_001244894.1:p.Leu809Pro
NM_001257966.1:c.2128+6002T>C	NP_001244895.1:n.2128+6002T>C
NM_201253.2:c.2633T>C	NP_957705.1:p.Leu878Pro
NR_047563.1:n.2634T>C
NR_047564.1:n.2842T>C
XM_011509365.1:c.2633T>C	XP_011507667.1:p.Leu878Pro
XM_011509366.1:c.2633T>C	XP_011507668.1:p.Leu878Pro
XM_011509367.1:c.2633T>C	XP_011507669.1:p.Leu878Pro
XM_011509368.1:c.2051T>C	XP_011507670.1:p.Leu684Pro
XM_011509369.1:c.1076T>C	XP_011507671.1:p.Leu359Pro
XM_011509365.2:c.2633T>C	XP_011507667.1:p.Leu878Pro
XM_011509369.2:c.1076T>C	XP_011507671.1:p.Leu359Pro
XM_017000851.1:c.1790T>C	XP_016856340.1:p.Leu597Pro
XM_017000852.1:c.2633T>C	XP_016856341.1:p.Leu878Pro
NM_201253.3:c.2633T>C MANE Select	NP_957705.1:p.Leu878Pro
NM_001193640.2:c.2297T>C	NP_001180569.1:p.Leu766Pro
NM_001257965.2:c.2426T>C	NP_001244894.1:p.Leu809Pro
NR_047563.2:n.2586T>C
NR_047564.2:n.2794T>C
NM_001257966.2:c.2128+6002T>C	NP_001244895.1:n.2128+6002T>C