Canonical Allele Identifier: CA35900710

Gene: CRB1

Linked Data

• dbSNP Id: rs879093298
• gnomAD v4: 1-197427662-T-C
• MyVariant Identifiers: chr1:g.197396792T>C (hg19) ; chr1:g.197427662T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427662T>C , CM000663.2:g.197427662T>C	GRCh38
NC_000001.10:g.197396792T>C , CM000663.1:g.197396792T>C	GRCh37
NC_000001.9:g.195663415T>C	NCBI36
NG_008483.1:g.164385T>C
NG_008483.2:g.231201T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2337T>C MANE Select	ENSP00000356370.3:p.Ser779=
ENST00000638467.1:c.2337T>C	ENSP00000491102.1:p.Ser779=
ENST00000681519.1:c.1218T>C	ENSP00000505267.1:p.Ser406=
ENST00000367397.1:c.480T>C	ENSP00000356367.1:p.Ser160=
ENST00000367399.6:c.2001T>C	ENSP00000356369.2:p.Ser667=
ENST00000367400.7:c.2337T>C	ENSP00000356370.3:p.Ser779=
ENST00000480086.2:n.238T>C
ENST00000484075.5:c.2337T>C	ENSP00000433932.1:p.Ser779=
ENST00000535699.5:c.2130T>C	ENSP00000438786.1:p.Ser710=
ENST00000538660.5:c.2128+5706T>C	ENSP00000438091.1:n.2128+5706T>C
NM_001193640.1:c.2001T>C	NP_001180569.1:p.Ser667=
NM_001257965.1:c.2130T>C	NP_001244894.1:p.Ser710=
NM_001257966.1:c.2128+5706T>C	NP_001244895.1:n.2128+5706T>C
NM_201253.2:c.2337T>C	NP_957705.1:p.Ser779=
NR_047563.1:n.2338T>C
NR_047564.1:n.2546T>C
XM_011509365.1:c.2337T>C	XP_011507667.1:p.Ser779=
XM_011509366.1:c.2337T>C	XP_011507668.1:p.Ser779=
XM_011509367.1:c.2337T>C	XP_011507669.1:p.Ser779=
XM_011509368.1:c.1755T>C	XP_011507670.1:p.Ser585=
XM_011509369.1:c.780T>C	XP_011507671.1:p.Ser260=
XM_011509365.2:c.2337T>C	XP_011507667.1:p.Ser779=
XM_011509369.2:c.780T>C	XP_011507671.1:p.Ser260=
XM_017000851.1:c.1494T>C	XP_016856340.1:p.Ser498=
XM_017000852.1:c.2337T>C	XP_016856341.1:p.Ser779=
NM_201253.3:c.2337T>C MANE Select	NP_957705.1:p.Ser779=
NM_001193640.2:c.2001T>C	NP_001180569.1:p.Ser667=
NM_001257965.2:c.2130T>C	NP_001244894.1:p.Ser710=
NR_047563.2:n.2290T>C
NR_047564.2:n.2498T>C
NM_001257966.2:c.2128+5706T>C	NP_001244895.1:n.2128+5706T>C