Canonical Allele Identifier: CA422677463

Gene: CRB1

Linked Data

• dbSNP Id: rs142057392
• MyVariant Identifiers: chr1:g.197446814C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477684C>G , CM000663.2:g.197477684C>G	GRCh38
NC_000001.10:g.197446814C>G , CM000663.1:g.197446814C>G	GRCh37
NC_000001.9:g.195713437C>G	NCBI36
NG_008483.1:g.214407C>G
NG_008483.2:g.281223C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4026C>G MANE Select	ENSP00000356370.3:p.Ser1342=
ENST00000367399.6:c.3690C>G	ENSP00000356369.2:p.Ser1230=
ENST00000367400.7:c.4026C>G	ENSP00000356370.3:p.Ser1342=
ENST00000448952.1:c.260C>G	ENSP00000395407.1:n.260C>G
ENST00000484075.5:c.*137C>G	ENSP00000433932.1:n.*137C>G
ENST00000535699.5:c.3954C>G	ENSP00000438786.1:p.Ser1318=
ENST00000538660.5:c.2418C>G	ENSP00000438091.1:p.Ser806=
NM_001193640.1:c.3690C>G	NP_001180569.1:p.Ser1230=
NM_001257965.1:c.3954C>G	NP_001244894.1:p.Ser1318=
NM_001257966.1:c.2418C>G	NP_001244895.1:p.Ser806=
NM_201253.2:c.4026C>G	NP_957705.1:p.Ser1342=
NR_047563.1:n.4027C>G
NR_047564.1:n.4477C>G
XM_011509366.1:c.*131C>G	XP_011507668.1:n.*131C>G
XM_011509367.1:c.*5C>G	XP_011507669.1:n.*5C>G
XM_011509368.1:c.3444C>G	XP_011507670.1:p.Ser1148=
XM_011509369.1:c.2469C>G	XP_011507671.1:p.Ser823=
XM_011509369.2:c.2469C>G	XP_011507671.1:p.Ser823=
XM_017000851.1:c.3183C>G	XP_016856340.1:p.Ser1061=
XM_017000852.1:c.4161C>G	XP_016856341.1:p.Ser1387=
NM_201253.3:c.4026C>G MANE Select	NP_957705.1:p.Ser1342=
NM_001193640.2:c.3690C>G	NP_001180569.1:p.Ser1230=
NM_001257965.2:c.3954C>G	NP_001244894.1:p.Ser1318=
NR_047563.2:n.3979C>G
NR_047564.2:n.4429C>G
NM_001257966.2:c.2418C>G	NP_001244895.1:p.Ser806=