Canonical Allele Identifier: CA422808203

Gene: CRB1

Linked Data

• dbSNP Id: rs1664288695
• MyVariant Identifiers: chr1:g.197390281T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421151T>C , CM000663.2:g.197421151T>C	GRCh38
NC_000001.10:g.197390281T>C , CM000663.1:g.197390281T>C	GRCh37
NC_000001.9:g.195656904T>C	NCBI36
NG_008483.1:g.157874T>C
NG_008483.2:g.224690T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1323T>C MANE Select	ENSP00000356370.3:p.Ile441=
ENST00000638467.1:c.1323T>C	ENSP00000491102.1:p.Ile441=
ENST00000681519.1:c.204T>C	ENSP00000505267.1:p.Ile68=
ENST00000367397.1:c.-535T>C	ENSP00000356367.1:n.-535T>C
ENST00000367399.6:c.987T>C	ENSP00000356369.2:p.Ile329=
ENST00000367400.7:c.1323T>C	ENSP00000356370.3:p.Ile441=
ENST00000476483.1:n.283T>C
ENST00000484075.5:c.1323T>C	ENSP00000433932.1:p.Ile441=
ENST00000535699.5:c.1116T>C	ENSP00000438786.1:p.Ile372=
ENST00000538660.5:c.1323T>C	ENSP00000438091.1:p.Ile441=
NM_001193640.1:c.987T>C	NP_001180569.1:p.Ile329=
NM_001257965.1:c.1116T>C	NP_001244894.1:p.Ile372=
NM_001257966.1:c.1323T>C	NP_001244895.1:p.Ile441=
NM_201253.2:c.1323T>C	NP_957705.1:p.Ile441=
NR_047563.1:n.1532T>C
NR_047564.1:n.1532T>C
XM_011509365.1:c.1323T>C	XP_011507667.1:p.Ile441=
XM_011509366.1:c.1323T>C	XP_011507668.1:p.Ile441=
XM_011509367.1:c.1323T>C	XP_011507669.1:p.Ile441=
XM_011509368.1:c.741T>C	XP_011507670.1:p.Ile247=
XM_011509369.1:c.-235T>C	XP_011507671.1:n.-235T>C
XM_011509365.2:c.1323T>C	XP_011507667.1:p.Ile441=
XM_011509369.2:c.-235T>C	XP_011507671.1:n.-235T>C
XM_017000851.1:c.480T>C	XP_016856340.1:p.Ile160=
XM_017000852.1:c.1323T>C	XP_016856341.1:p.Ile441=
NM_201253.3:c.1323T>C MANE Select	NP_957705.1:p.Ile441=
NM_001193640.2:c.987T>C	NP_001180569.1:p.Ile329=
NM_001257965.2:c.1116T>C	NP_001244894.1:p.Ile372=
NR_047563.2:n.1484T>C
NR_047564.2:n.1484T>C
NM_001257966.2:c.1323T>C	NP_001244895.1:p.Ile441=