Canonical Allele Identifier: CA344037119
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1407037
ClinVar RCV Id: RCV001918230
dbSNP Id: rs2125484499

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427718T>A , CM000663.2:g.197427718T>A GRCh38
NC_000001.10:g.197396848T>A , CM000663.1:g.197396848T>A GRCh37
NC_000001.9:g.195663471T>A NCBI36
NG_008483.1:g.164441T>A
NG_008483.2:g.231257T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2393T>A MANE Select ENSP00000356370.3:p.Leu798Ter
ENST00000638467.1:c.2393T>A ENSP00000491102.1:p.Leu798Ter
ENST00000681519.1:c.1274T>A ENSP00000505267.1:p.Leu425Ter
ENST00000367397.1:c.536T>A ENSP00000356367.1:p.Leu179Ter
ENST00000367399.6:c.2057T>A ENSP00000356369.2:p.Leu686Ter
ENST00000367400.7:c.2393T>A ENSP00000356370.3:p.Leu798Ter
ENST00000480086.2:n.294T>A
ENST00000484075.5:c.2393T>A ENSP00000433932.1:p.Leu798Ter
ENST00000535699.5:c.2186T>A ENSP00000438786.1:p.Leu729Ter
ENST00000538660.5:c.2128+5762T>A ENSP00000438091.1:n.2128+5762T>A
NM_001193640.1:c.2057T>A NP_001180569.1:p.Leu686Ter
NM_001257965.1:c.2186T>A NP_001244894.1:p.Leu729Ter
NM_001257966.1:c.2128+5762T>A NP_001244895.1:n.2128+5762T>A
NM_201253.2:c.2393T>A NP_957705.1:p.Leu798Ter
NR_047563.1:n.2394T>A
NR_047564.1:n.2602T>A
XM_011509365.1:c.2393T>A XP_011507667.1:p.Leu798Ter
XM_011509366.1:c.2393T>A XP_011507668.1:p.Leu798Ter
XM_011509367.1:c.2393T>A XP_011507669.1:p.Leu798Ter
XM_011509368.1:c.1811T>A XP_011507670.1:p.Leu604Ter
XM_011509369.1:c.836T>A XP_011507671.1:p.Leu279Ter
XM_011509365.2:c.2393T>A XP_011507667.1:p.Leu798Ter
XM_011509369.2:c.836T>A XP_011507671.1:p.Leu279Ter
XM_017000851.1:c.1550T>A XP_016856340.1:p.Leu517Ter
XM_017000852.1:c.2393T>A XP_016856341.1:p.Leu798Ter
NM_201253.3:c.2393T>A MANE Select NP_957705.1:p.Leu798Ter
NM_001193640.2:c.2057T>A NP_001180569.1:p.Leu686Ter
NM_001257965.2:c.2186T>A NP_001244894.1:p.Leu729Ter
NR_047563.2:n.2346T>A
NR_047564.2:n.2554T>A
NM_001257966.2:c.2128+5762T>A NP_001244895.1:n.2128+5762T>A