Canonical Allele Identifier: CA344035445

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446816A>C (hg19) ; chr1:g.197477686A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477686A>C , CM000663.2:g.197477686A>C	GRCh38
NC_000001.10:g.197446816A>C , CM000663.1:g.197446816A>C	GRCh37
NC_000001.9:g.195713439A>C	NCBI36
NG_008483.1:g.214409A>C
NG_008483.2:g.281225A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4028A>C MANE Select	ENSP00000356370.3:p.Asp1343Ala
ENST00000367399.6:c.3692A>C	ENSP00000356369.2:p.Asp1231Ala
ENST00000367400.7:c.4028A>C	ENSP00000356370.3:p.Asp1343Ala
ENST00000448952.1:c.262A>C	ENSP00000395407.1:n.262A>C
ENST00000484075.5:c.*139A>C	ENSP00000433932.1:n.*139A>C
ENST00000535699.5:c.3956A>C	ENSP00000438786.1:p.Asp1319Ala
ENST00000538660.5:c.2420A>C	ENSP00000438091.1:p.Asp807Ala
NM_001193640.1:c.3692A>C	NP_001180569.1:p.Asp1231Ala
NM_001257965.1:c.3956A>C	NP_001244894.1:p.Asp1319Ala
NM_001257966.1:c.2420A>C	NP_001244895.1:p.Asp807Ala
NM_201253.2:c.4028A>C	NP_957705.1:p.Asp1343Ala
NR_047563.1:n.4029A>C
NR_047564.1:n.4479A>C
XM_011509366.1:c.*133A>C	XP_011507668.1:n.*133A>C
XM_011509367.1:c.*7A>C	XP_011507669.1:n.*7A>C
XM_011509368.1:c.3446A>C	XP_011507670.1:p.Asp1149Ala
XM_011509369.1:c.2471A>C	XP_011507671.1:p.Asp824Ala
XM_011509369.2:c.2471A>C	XP_011507671.1:p.Asp824Ala
XM_017000851.1:c.3185A>C	XP_016856340.1:p.Asp1062Ala
XM_017000852.1:c.4163A>C	XP_016856341.1:p.Asp1388Ala
NM_201253.3:c.4028A>C MANE Select	NP_957705.1:p.Asp1343Ala
NM_001193640.2:c.3692A>C	NP_001180569.1:p.Asp1231Ala
NM_001257965.2:c.3956A>C	NP_001244894.1:p.Asp1319Ala
NR_047563.2:n.3981A>C
NR_047564.2:n.4431A>C
NM_001257966.2:c.2420A>C	NP_001244895.1:p.Asp807Ala