Canonical Allele Identifier: CA344031236

Gene: CRB1

Linked Data

• gnomAD v4: 1-197421338-A-G
• MyVariant Identifiers: chr1:g.197390468A>G (hg19) ; chr1:g.197421338A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421338A>G , CM000663.2:g.197421338A>G	GRCh38
NC_000001.10:g.197390468A>G , CM000663.1:g.197390468A>G	GRCh37
NC_000001.9:g.195657091A>G	NCBI36
NG_008483.1:g.158061A>G
NG_008483.2:g.224877A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1510A>G MANE Select	ENSP00000356370.3:p.Lys504Glu
ENST00000638467.1:c.1510A>G	ENSP00000491102.1:p.Lys504Glu
ENST00000681519.1:c.391A>G	ENSP00000505267.1:p.Lys131Glu
ENST00000367397.1:c.-348A>G	ENSP00000356367.1:n.-348A>G
ENST00000367399.6:c.1174A>G	ENSP00000356369.2:p.Lys392Glu
ENST00000367400.7:c.1510A>G	ENSP00000356370.3:p.Lys504Glu
ENST00000476483.1:n.470A>G
ENST00000484075.5:c.1510A>G	ENSP00000433932.1:p.Lys504Glu
ENST00000535699.5:c.1303A>G	ENSP00000438786.1:p.Lys435Glu
ENST00000538660.5:c.1510A>G	ENSP00000438091.1:p.Lys504Glu
NM_001193640.1:c.1174A>G	NP_001180569.1:p.Lys392Glu
NM_001257965.1:c.1303A>G	NP_001244894.1:p.Lys435Glu
NM_001257966.1:c.1510A>G	NP_001244895.1:p.Lys504Glu
NM_201253.2:c.1510A>G	NP_957705.1:p.Lys504Glu
NR_047563.1:n.1719A>G
NR_047564.1:n.1719A>G
XM_011509365.1:c.1510A>G	XP_011507667.1:p.Lys504Glu
XM_011509366.1:c.1510A>G	XP_011507668.1:p.Lys504Glu
XM_011509367.1:c.1510A>G	XP_011507669.1:p.Lys504Glu
XM_011509368.1:c.928A>G	XP_011507670.1:p.Lys310Glu
XM_011509369.1:c.-48A>G	XP_011507671.1:n.-48A>G
XM_011509365.2:c.1510A>G	XP_011507667.1:p.Lys504Glu
XM_011509369.2:c.-48A>G	XP_011507671.1:n.-48A>G
XM_017000851.1:c.667A>G	XP_016856340.1:p.Lys223Glu
XM_017000852.1:c.1510A>G	XP_016856341.1:p.Lys504Glu
NM_201253.3:c.1510A>G MANE Select	NP_957705.1:p.Lys504Glu
NM_001193640.2:c.1174A>G	NP_001180569.1:p.Lys392Glu
NM_001257965.2:c.1303A>G	NP_001244894.1:p.Lys435Glu
NR_047563.2:n.1671A>G
NR_047564.2:n.1671A>G
NM_001257966.2:c.1510A>G	NP_001244895.1:p.Lys504Glu