Canonical Allele Identifier: CA344031756

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1512076
• ClinVar RCV Id: RCV002020732
• dbSNP Id: rs2125470239
• MyVariant Identifiers: chr1:g.197390583T>C (hg19) ; chr1:g.197421453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421453T>C , CM000663.2:g.197421453T>C	GRCh38
NC_000001.10:g.197390583T>C , CM000663.1:g.197390583T>C	GRCh37
NC_000001.9:g.195657206T>C	NCBI36
NG_008483.1:g.158176T>C
NG_008483.2:g.224992T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1625T>C MANE Select	ENSP00000356370.3:p.Ile542Thr
ENST00000638467.1:c.1625T>C	ENSP00000491102.1:p.Ile542Thr
ENST00000681519.1:c.506T>C	ENSP00000505267.1:p.Ile169Thr
ENST00000367397.1:c.-233T>C	ENSP00000356367.1:n.-233T>C
ENST00000367399.6:c.1289T>C	ENSP00000356369.2:p.Ile430Thr
ENST00000367400.7:c.1625T>C	ENSP00000356370.3:p.Ile542Thr
ENST00000484075.5:c.1625T>C	ENSP00000433932.1:p.Ile542Thr
ENST00000535699.5:c.1418T>C	ENSP00000438786.1:p.Ile473Thr
ENST00000538660.5:c.1625T>C	ENSP00000438091.1:p.Ile542Thr
NM_001193640.1:c.1289T>C	NP_001180569.1:p.Ile430Thr
NM_001257965.1:c.1418T>C	NP_001244894.1:p.Ile473Thr
NM_001257966.1:c.1625T>C	NP_001244895.1:p.Ile542Thr
NM_201253.2:c.1625T>C	NP_957705.1:p.Ile542Thr
NR_047563.1:n.1834T>C
NR_047564.1:n.1834T>C
XM_011509365.1:c.1625T>C	XP_011507667.1:p.Ile542Thr
XM_011509366.1:c.1625T>C	XP_011507668.1:p.Ile542Thr
XM_011509367.1:c.1625T>C	XP_011507669.1:p.Ile542Thr
XM_011509368.1:c.1043T>C	XP_011507670.1:p.Ile348Thr
XM_011509369.1:c.68T>C	XP_011507671.1:p.Ile23Thr
XM_011509365.2:c.1625T>C	XP_011507667.1:p.Ile542Thr
XM_011509369.2:c.68T>C	XP_011507671.1:p.Ile23Thr
XM_017000851.1:c.782T>C	XP_016856340.1:p.Ile261Thr
XM_017000852.1:c.1625T>C	XP_016856341.1:p.Ile542Thr
NM_201253.3:c.1625T>C MANE Select	NP_957705.1:p.Ile542Thr
NM_001193640.2:c.1289T>C	NP_001180569.1:p.Ile430Thr
NM_001257965.2:c.1418T>C	NP_001244894.1:p.Ile473Thr
NR_047563.2:n.1786T>C
NR_047564.2:n.1786T>C
NM_001257966.2:c.1625T>C	NP_001244895.1:p.Ile542Thr