Canonical Allele Identifier: CA344035385

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446797G>C (hg19) ; chr1:g.197477667G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477667G>C , CM000663.2:g.197477667G>C	GRCh38
NC_000001.10:g.197446797G>C , CM000663.1:g.197446797G>C	GRCh37
NC_000001.9:g.195713420G>C	NCBI36
NG_008483.1:g.214390G>C
NG_008483.2:g.281206G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4009G>C MANE Select	ENSP00000356370.3:p.Ala1337Pro
ENST00000367399.6:c.3673G>C	ENSP00000356369.2:p.Ala1225Pro
ENST00000367400.7:c.4009G>C	ENSP00000356370.3:p.Ala1337Pro
ENST00000448952.1:c.243G>C	ENSP00000395407.1:n.243G>C
ENST00000484075.5:c.*120G>C	ENSP00000433932.1:n.*120G>C
ENST00000535699.5:c.3937G>C	ENSP00000438786.1:p.Ala1313Pro
ENST00000538660.5:c.2401G>C	ENSP00000438091.1:p.Ala801Pro
NM_001193640.1:c.3673G>C	NP_001180569.1:p.Ala1225Pro
NM_001257965.1:c.3937G>C	NP_001244894.1:p.Ala1313Pro
NM_001257966.1:c.2401G>C	NP_001244895.1:p.Ala801Pro
NM_201253.2:c.4009G>C	NP_957705.1:p.Ala1337Pro
NR_047563.1:n.4010G>C
NR_047564.1:n.4460G>C
XM_011509366.1:c.*114G>C	XP_011507668.1:n.*114G>C
XM_011509367.1:c.3882G>C	XP_011507669.1:p.Trp1294Cys
XM_011509368.1:c.3427G>C	XP_011507670.1:p.Ala1143Pro
XM_011509369.1:c.2452G>C	XP_011507671.1:p.Ala818Pro
XM_011509369.2:c.2452G>C	XP_011507671.1:p.Ala818Pro
XM_017000851.1:c.3166G>C	XP_016856340.1:p.Ala1056Pro
XM_017000852.1:c.4144G>C	XP_016856341.1:p.Ala1382Pro
NM_201253.3:c.4009G>C MANE Select	NP_957705.1:p.Ala1337Pro
NM_001193640.2:c.3673G>C	NP_001180569.1:p.Ala1225Pro
NM_001257965.2:c.3937G>C	NP_001244894.1:p.Ala1313Pro
NR_047563.2:n.3962G>C
NR_047564.2:n.4412G>C
NM_001257966.2:c.2401G>C	NP_001244895.1:p.Ala801Pro