Canonical Allele Identifier: CA344032139

Gene: CRB1

Linked Data

• dbSNP Id: rs1282600873
• gnomAD v4: 1-197421526-G-C
• MyVariant Identifiers: chr1:g.197390656G>C (hg19) ; chr1:g.197421526G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421526G>C , CM000663.2:g.197421526G>C	GRCh38
NC_000001.10:g.197390656G>C , CM000663.1:g.197390656G>C	GRCh37
NC_000001.9:g.195657279G>C	NCBI36
NG_008483.1:g.158249G>C
NG_008483.2:g.225065G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1698G>C MANE Select	ENSP00000356370.3:p.Glu566Asp
ENST00000638467.1:c.1698G>C	ENSP00000491102.1:p.Glu566Asp
ENST00000681519.1:c.579G>C	ENSP00000505267.1:p.Glu193Asp
ENST00000367397.1:c.-160G>C	ENSP00000356367.1:n.-160G>C
ENST00000367399.6:c.1362G>C	ENSP00000356369.2:p.Glu454Asp
ENST00000367400.7:c.1698G>C	ENSP00000356370.3:p.Glu566Asp
ENST00000484075.5:c.1698G>C	ENSP00000433932.1:p.Glu566Asp
ENST00000535699.5:c.1491G>C	ENSP00000438786.1:p.Glu497Asp
ENST00000538660.5:c.1698G>C	ENSP00000438091.1:p.Glu566Asp
NM_001193640.1:c.1362G>C	NP_001180569.1:p.Glu454Asp
NM_001257965.1:c.1491G>C	NP_001244894.1:p.Glu497Asp
NM_001257966.1:c.1698G>C	NP_001244895.1:p.Glu566Asp
NM_201253.2:c.1698G>C	NP_957705.1:p.Glu566Asp
NR_047563.1:n.1907G>C
NR_047564.1:n.1907G>C
XM_011509365.1:c.1698G>C	XP_011507667.1:p.Glu566Asp
XM_011509366.1:c.1698G>C	XP_011507668.1:p.Glu566Asp
XM_011509367.1:c.1698G>C	XP_011507669.1:p.Glu566Asp
XM_011509368.1:c.1116G>C	XP_011507670.1:p.Glu372Asp
XM_011509369.1:c.141G>C	XP_011507671.1:p.Glu47Asp
XM_011509365.2:c.1698G>C	XP_011507667.1:p.Glu566Asp
XM_011509369.2:c.141G>C	XP_011507671.1:p.Glu47Asp
XM_017000851.1:c.855G>C	XP_016856340.1:p.Glu285Asp
XM_017000852.1:c.1698G>C	XP_016856341.1:p.Glu566Asp
NM_201253.3:c.1698G>C MANE Select	NP_957705.1:p.Glu566Asp
NM_001193640.2:c.1362G>C	NP_001180569.1:p.Glu454Asp
NM_001257965.2:c.1491G>C	NP_001244894.1:p.Glu497Asp
NR_047563.2:n.1859G>C
NR_047564.2:n.1859G>C
NM_001257966.2:c.1698G>C	NP_001244895.1:p.Glu566Asp