Canonical Allele Identifier: CA422808156
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1101944
ClinVar RCV Id: RCV001425049
dbSNP Id: rs2125468968
MyVariant Identifiers: chr1:g.197390191T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197421061T>A , CM000663.2:g.197421061T>A GRCh38
NC_000001.10:g.197390191T>A , CM000663.1:g.197390191T>A GRCh37
NC_000001.9:g.195656814T>A NCBI36
NG_008483.1:g.157784T>A
NG_008483.2:g.224600T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.1233T>A MANE Select ENSP00000356370.3:p.Thr411=
ENST00000638467.1:c.1233T>A ENSP00000491102.1:p.Thr411=
ENST00000681519.1:c.114T>A ENSP00000505267.1:p.Thr38=
ENST00000367397.1:c.-625T>A ENSP00000356367.1:n.-625T>A
ENST00000367399.6:c.897T>A ENSP00000356369.2:p.Thr299=
ENST00000367400.7:c.1233T>A ENSP00000356370.3:p.Thr411=
ENST00000476483.1:n.193T>A
ENST00000484075.5:c.1233T>A ENSP00000433932.1:p.Thr411=
ENST00000535699.5:c.1026T>A ENSP00000438786.1:p.Thr342=
ENST00000538660.5:c.1233T>A ENSP00000438091.1:p.Thr411=
NM_001193640.1:c.897T>A NP_001180569.1:p.Thr299=
NM_001257965.1:c.1026T>A NP_001244894.1:p.Thr342=
NM_001257966.1:c.1233T>A NP_001244895.1:p.Thr411=
NM_201253.2:c.1233T>A NP_957705.1:p.Thr411=
NR_047563.1:n.1442T>A
NR_047564.1:n.1442T>A
XM_011509365.1:c.1233T>A XP_011507667.1:p.Thr411=
XM_011509366.1:c.1233T>A XP_011507668.1:p.Thr411=
XM_011509367.1:c.1233T>A XP_011507669.1:p.Thr411=
XM_011509368.1:c.651T>A XP_011507670.1:p.Thr217=
XM_011509369.1:c.-325T>A XP_011507671.1:n.-325T>A
XM_011509365.2:c.1233T>A XP_011507667.1:p.Thr411=
XM_011509369.2:c.-325T>A XP_011507671.1:n.-325T>A
XM_017000851.1:c.390T>A XP_016856340.1:p.Thr130=
XM_017000852.1:c.1233T>A XP_016856341.1:p.Thr411=
NM_201253.3:c.1233T>A MANE Select NP_957705.1:p.Thr411=
NM_001193640.2:c.897T>A NP_001180569.1:p.Thr299=
NM_001257965.2:c.1026T>A NP_001244894.1:p.Thr342=
NR_047563.2:n.1394T>A
NR_047564.2:n.1394T>A
NM_001257966.2:c.1233T>A NP_001244895.1:p.Thr411=