Canonical Allele Identifier: CA344038011

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1058154
• ClinVar RCV Id: RCV001367251
• dbSNP Id: rs2125484956
• MyVariant Identifiers: chr1:g.197396977C>T (hg19) ; chr1:g.197427847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427847C>T , CM000663.2:g.197427847C>T	GRCh38
NC_000001.10:g.197396977C>T , CM000663.1:g.197396977C>T	GRCh37
NC_000001.9:g.195663600C>T	NCBI36
NG_008483.1:g.164570C>T
NG_008483.2:g.231386C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2522C>T MANE Select	ENSP00000356370.3:p.Thr841Ile
ENST00000638467.1:c.2522C>T	ENSP00000491102.1:p.Thr841Ile
ENST00000681519.1:c.1403C>T	ENSP00000505267.1:p.Thr468Ile
ENST00000367397.1:c.665C>T	ENSP00000356367.1:p.Thr222Ile
ENST00000367399.6:c.2186C>T	ENSP00000356369.2:p.Thr729Ile
ENST00000367400.7:c.2522C>T	ENSP00000356370.3:p.Thr841Ile
ENST00000484075.5:c.2522C>T	ENSP00000433932.1:p.Thr841Ile
ENST00000535699.5:c.2315C>T	ENSP00000438786.1:p.Thr772Ile
ENST00000538660.5:c.2128+5891C>T	ENSP00000438091.1:n.2128+5891C>T
NM_001193640.1:c.2186C>T	NP_001180569.1:p.Thr729Ile
NM_001257965.1:c.2315C>T	NP_001244894.1:p.Thr772Ile
NM_001257966.1:c.2128+5891C>T	NP_001244895.1:n.2128+5891C>T
NM_201253.2:c.2522C>T	NP_957705.1:p.Thr841Ile
NR_047563.1:n.2523C>T
NR_047564.1:n.2731C>T
XM_011509365.1:c.2522C>T	XP_011507667.1:p.Thr841Ile
XM_011509366.1:c.2522C>T	XP_011507668.1:p.Thr841Ile
XM_011509367.1:c.2522C>T	XP_011507669.1:p.Thr841Ile
XM_011509368.1:c.1940C>T	XP_011507670.1:p.Thr647Ile
XM_011509369.1:c.965C>T	XP_011507671.1:p.Thr322Ile
XM_011509365.2:c.2522C>T	XP_011507667.1:p.Thr841Ile
XM_011509369.2:c.965C>T	XP_011507671.1:p.Thr322Ile
XM_017000851.1:c.1679C>T	XP_016856340.1:p.Thr560Ile
XM_017000852.1:c.2522C>T	XP_016856341.1:p.Thr841Ile
NM_201253.3:c.2522C>T MANE Select	NP_957705.1:p.Thr841Ile
NM_001193640.2:c.2186C>T	NP_001180569.1:p.Thr729Ile
NM_001257965.2:c.2315C>T	NP_001244894.1:p.Thr772Ile
NR_047563.2:n.2475C>T
NR_047564.2:n.2683C>T
NM_001257966.2:c.2128+5891C>T	NP_001244895.1:n.2128+5891C>T