Canonical Allele Identifier: CA1311980

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2428442
• ClinVar RCV Id: RCV003120053
• dbSNP Id: rs146486883
• ExAC: 1:197390733 T / C
• gnomAD v2: 1-197390733-T-C
• gnomAD v4: 1-197421603-T-C
• MyVariant Identifiers: chr1:g.197390733T>C (hg19) ; chr1:g.197421603T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421603T>C , CM000663.2:g.197421603T>C	GRCh38
NC_000001.10:g.197390733T>C , CM000663.1:g.197390733T>C	GRCh37
NC_000001.9:g.195657356T>C	NCBI36
NG_008483.1:g.158326T>C
NG_008483.2:g.225142T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1775T>C MANE Select	ENSP00000356370.3:p.Ile592Thr
ENST00000638467.1:c.1775T>C	ENSP00000491102.1:p.Ile592Thr
ENST00000681519.1:c.656T>C	ENSP00000505267.1:p.Ile219Thr
ENST00000367397.1:c.-83T>C	ENSP00000356367.1:n.-83T>C
ENST00000367399.6:c.1439T>C	ENSP00000356369.2:p.Ile480Thr
ENST00000367400.7:c.1775T>C	ENSP00000356370.3:p.Ile592Thr
ENST00000484075.5:c.1775T>C	ENSP00000433932.1:p.Ile592Thr
ENST00000535699.5:c.1568T>C	ENSP00000438786.1:p.Ile523Thr
ENST00000538660.5:c.1775T>C	ENSP00000438091.1:p.Ile592Thr
NM_001193640.1:c.1439T>C	NP_001180569.1:p.Ile480Thr
NM_001257965.1:c.1568T>C	NP_001244894.1:p.Ile523Thr
NM_001257966.1:c.1775T>C	NP_001244895.1:p.Ile592Thr
NM_201253.2:c.1775T>C	NP_957705.1:p.Ile592Thr
NR_047563.1:n.1922+62T>C
NR_047564.1:n.1984T>C
XM_011509365.1:c.1775T>C	XP_011507667.1:p.Ile592Thr
XM_011509366.1:c.1775T>C	XP_011507668.1:p.Ile592Thr
XM_011509367.1:c.1775T>C	XP_011507669.1:p.Ile592Thr
XM_011509368.1:c.1193T>C	XP_011507670.1:p.Ile398Thr
XM_011509369.1:c.218T>C	XP_011507671.1:p.Ile73Thr
XM_011509365.2:c.1775T>C	XP_011507667.1:p.Ile592Thr
XM_011509369.2:c.218T>C	XP_011507671.1:p.Ile73Thr
XM_017000851.1:c.932T>C	XP_016856340.1:p.Ile311Thr
XM_017000852.1:c.1775T>C	XP_016856341.1:p.Ile592Thr
NM_201253.3:c.1775T>C MANE Select	NP_957705.1:p.Ile592Thr
NM_001193640.2:c.1439T>C	NP_001180569.1:p.Ile480Thr
NM_001257965.2:c.1568T>C	NP_001244894.1:p.Ile523Thr
NR_047563.2:n.1874+62T>C
NR_047564.2:n.1936T>C
NM_001257966.2:c.1775T>C	NP_001244895.1:p.Ile592Thr