Canonical Allele Identifier: CA344035450

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446818A>C (hg19) ; chr1:g.197477688A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477688A>C , CM000663.2:g.197477688A>C	GRCh38
NC_000001.10:g.197446818A>C , CM000663.1:g.197446818A>C	GRCh37
NC_000001.9:g.195713441A>C	NCBI36
NG_008483.1:g.214411A>C
NG_008483.2:g.281227A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4030A>C MANE Select	ENSP00000356370.3:p.Ile1344Leu
ENST00000367399.6:c.3694A>C	ENSP00000356369.2:p.Ile1232Leu
ENST00000367400.7:c.4030A>C	ENSP00000356370.3:p.Ile1344Leu
ENST00000448952.1:c.264A>C	ENSP00000395407.1:n.264A>C
ENST00000484075.5:c.*141A>C	ENSP00000433932.1:n.*141A>C
ENST00000535699.5:c.3958A>C	ENSP00000438786.1:p.Ile1320Leu
ENST00000538660.5:c.2422A>C	ENSP00000438091.1:p.Ile808Leu
NM_001193640.1:c.3694A>C	NP_001180569.1:p.Ile1232Leu
NM_001257965.1:c.3958A>C	NP_001244894.1:p.Ile1320Leu
NM_001257966.1:c.2422A>C	NP_001244895.1:p.Ile808Leu
NM_201253.2:c.4030A>C	NP_957705.1:p.Ile1344Leu
NR_047563.1:n.4031A>C
NR_047564.1:n.4481A>C
XM_011509366.1:c.*135A>C	XP_011507668.1:n.*135A>C
XM_011509367.1:c.*9A>C	XP_011507669.1:n.*9A>C
XM_011509368.1:c.3448A>C	XP_011507670.1:p.Ile1150Leu
XM_011509369.1:c.2473A>C	XP_011507671.1:p.Ile825Leu
XM_011509369.2:c.2473A>C	XP_011507671.1:p.Ile825Leu
XM_017000851.1:c.3187A>C	XP_016856340.1:p.Ile1063Leu
XM_017000852.1:c.4165A>C	XP_016856341.1:p.Ile1389Leu
NM_201253.3:c.4030A>C MANE Select	NP_957705.1:p.Ile1344Leu
NM_001193640.2:c.3694A>C	NP_001180569.1:p.Ile1232Leu
NM_001257965.2:c.3958A>C	NP_001244894.1:p.Ile1320Leu
NR_047563.2:n.3983A>C
NR_047564.2:n.4433A>C
NM_001257966.2:c.2422A>C	NP_001244895.1:p.Ile808Leu