Canonical Allele Identifier: CA422677629

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197447006T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477876T>C , CM000663.2:g.197477876T>C	GRCh38
NC_000001.10:g.197447006T>C , CM000663.1:g.197447006T>C	GRCh37
NC_000001.9:g.195713629T>C	NCBI36
NG_008483.1:g.214599T>C
NG_008483.2:g.281415T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4218T>C MANE Select	ENSP00000356370.3:p.Ile1406=
ENST00000367399.6:c.3882T>C	ENSP00000356369.2:p.Ile1294=
ENST00000367400.7:c.4218T>C	ENSP00000356370.3:p.Ile1406=
ENST00000448952.1:c.452T>C	ENSP00000395407.1:n.452T>C
ENST00000484075.5:c.*329T>C	ENSP00000433932.1:n.*329T>C
ENST00000535699.5:c.4146T>C	ENSP00000438786.1:p.Ile1382=
ENST00000538660.5:c.2610T>C	ENSP00000438091.1:p.Ile870=
NM_001193640.1:c.3882T>C	NP_001180569.1:p.Ile1294=
NM_001257965.1:c.4146T>C	NP_001244894.1:p.Ile1382=
NM_001257966.1:c.2610T>C	NP_001244895.1:p.Ile870=
NM_201253.2:c.4218T>C	NP_957705.1:p.Ile1406=
NR_047563.1:n.4219T>C
NR_047564.1:n.4669T>C
XM_011509366.1:c.*323T>C	XP_011507668.1:n.*323T>C
XM_011509367.1:c.*197T>C	XP_011507669.1:n.*197T>C
XM_011509368.1:c.3636T>C	XP_011507670.1:p.Ile1212=
XM_011509369.1:c.2661T>C	XP_011507671.1:p.Ile887=
XM_011509369.2:c.2661T>C	XP_011507671.1:p.Ile887=
XM_017000851.1:c.3375T>C	XP_016856340.1:p.Ile1125=
XM_017000852.1:c.4353T>C	XP_016856341.1:p.Ile1451=
NM_201253.3:c.4218T>C MANE Select	NP_957705.1:p.Ile1406=
NM_001193640.2:c.3882T>C	NP_001180569.1:p.Ile1294=
NM_001257965.2:c.4146T>C	NP_001244894.1:p.Ile1382=
NR_047563.2:n.4171T>C
NR_047564.2:n.4621T>C
NM_001257966.2:c.2610T>C	NP_001244895.1:p.Ile870=