Canonical Allele Identifier: CA344036120

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197447004A>C (hg19) ; chr1:g.197477874A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477874A>C , CM000663.2:g.197477874A>C	GRCh38
NC_000001.10:g.197447004A>C , CM000663.1:g.197447004A>C	GRCh37
NC_000001.9:g.195713627A>C	NCBI36
NG_008483.1:g.214597A>C
NG_008483.2:g.281413A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4216A>C MANE Select	ENSP00000356370.3:p.Ile1406Leu
ENST00000367399.6:c.3880A>C	ENSP00000356369.2:p.Ile1294Leu
ENST00000367400.7:c.4216A>C	ENSP00000356370.3:p.Ile1406Leu
ENST00000448952.1:c.450A>C	ENSP00000395407.1:n.450A>C
ENST00000484075.5:c.*327A>C	ENSP00000433932.1:n.*327A>C
ENST00000535699.5:c.4144A>C	ENSP00000438786.1:p.Ile1382Leu
ENST00000538660.5:c.2608A>C	ENSP00000438091.1:p.Ile870Leu
NM_001193640.1:c.3880A>C	NP_001180569.1:p.Ile1294Leu
NM_001257965.1:c.4144A>C	NP_001244894.1:p.Ile1382Leu
NM_001257966.1:c.2608A>C	NP_001244895.1:p.Ile870Leu
NM_201253.2:c.4216A>C	NP_957705.1:p.Ile1406Leu
NR_047563.1:n.4217A>C
NR_047564.1:n.4667A>C
XM_011509366.1:c.*321A>C	XP_011507668.1:n.*321A>C
XM_011509367.1:c.*195A>C	XP_011507669.1:n.*195A>C
XM_011509368.1:c.3634A>C	XP_011507670.1:p.Ile1212Leu
XM_011509369.1:c.2659A>C	XP_011507671.1:p.Ile887Leu
XM_011509369.2:c.2659A>C	XP_011507671.1:p.Ile887Leu
XM_017000851.1:c.3373A>C	XP_016856340.1:p.Ile1125Leu
XM_017000852.1:c.4351A>C	XP_016856341.1:p.Ile1451Leu
NM_201253.3:c.4216A>C MANE Select	NP_957705.1:p.Ile1406Leu
NM_001193640.2:c.3880A>C	NP_001180569.1:p.Ile1294Leu
NM_001257965.2:c.4144A>C	NP_001244894.1:p.Ile1382Leu
NR_047563.2:n.4169A>C
NR_047564.2:n.4619A>C
NM_001257966.2:c.2608A>C	NP_001244895.1:p.Ile870Leu