Canonical Allele Identifier: CA1311929

Gene: CRB1

Linked Data

• dbSNP Id: rs745552217
• ExAC: 1:197390461 G / C
• gnomAD v2: 1-197390461-G-C
• COSMIC: COSM3360563
• MyVariant Identifiers: chr1:g.197390461G>C (hg19) ; chr1:g.197421331G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421331G>C , CM000663.2:g.197421331G>C	GRCh38
NC_000001.10:g.197390461G>C , CM000663.1:g.197390461G>C	GRCh37
NC_000001.9:g.195657084G>C	NCBI36
NG_008483.1:g.158054G>C
NG_008483.2:g.224870G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1503G>C MANE Select	ENSP00000356370.3:p.Val501=
ENST00000638467.1:c.1503G>C	ENSP00000491102.1:p.Val501=
ENST00000681519.1:c.384G>C	ENSP00000505267.1:p.Val128=
ENST00000367397.1:c.-355G>C	ENSP00000356367.1:n.-355G>C
ENST00000367399.6:c.1167G>C	ENSP00000356369.2:p.Val389=
ENST00000367400.7:c.1503G>C	ENSP00000356370.3:p.Val501=
ENST00000476483.1:n.463G>C
ENST00000484075.5:c.1503G>C	ENSP00000433932.1:p.Val501=
ENST00000535699.5:c.1296G>C	ENSP00000438786.1:p.Val432=
ENST00000538660.5:c.1503G>C	ENSP00000438091.1:p.Val501=
NM_001193640.1:c.1167G>C	NP_001180569.1:p.Val389=
NM_001257965.1:c.1296G>C	NP_001244894.1:p.Val432=
NM_001257966.1:c.1503G>C	NP_001244895.1:p.Val501=
NM_201253.2:c.1503G>C	NP_957705.1:p.Val501=
NR_047563.1:n.1712G>C
NR_047564.1:n.1712G>C
XM_011509365.1:c.1503G>C	XP_011507667.1:p.Val501=
XM_011509366.1:c.1503G>C	XP_011507668.1:p.Val501=
XM_011509367.1:c.1503G>C	XP_011507669.1:p.Val501=
XM_011509368.1:c.921G>C	XP_011507670.1:p.Val307=
XM_011509369.1:c.-55G>C	XP_011507671.1:n.-55G>C
XM_011509365.2:c.1503G>C	XP_011507667.1:p.Val501=
XM_011509369.2:c.-55G>C	XP_011507671.1:n.-55G>C
XM_017000851.1:c.660G>C	XP_016856340.1:p.Val220=
XM_017000852.1:c.1503G>C	XP_016856341.1:p.Val501=
NM_201253.3:c.1503G>C MANE Select	NP_957705.1:p.Val501=
NM_001193640.2:c.1167G>C	NP_001180569.1:p.Val389=
NM_001257965.2:c.1296G>C	NP_001244894.1:p.Val432=
NR_047563.2:n.1664G>C
NR_047564.2:n.1664G>C
NM_001257966.2:c.1503G>C	NP_001244895.1:p.Val501=