Canonical Allele Identifier: CA1312193
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 973917
ClinVar RCV Id: RCV001250624
dbSNP Id: rs780489778

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197429465A>G , CM000663.2:g.197429465A>G GRCh38
NC_000001.10:g.197398595A>G , CM000663.1:g.197398595A>G GRCh37
NC_000001.9:g.195665218A>G NCBI36
NG_008483.1:g.166188A>G
NG_008483.2:g.233004A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2693A>G MANE Select ENSP00000356370.3:p.Asn898Ser
ENST00000638467.1:c.2693A>G ENSP00000491102.1:p.Asn898Ser
ENST00000681519.1:c.1574A>G ENSP00000505267.1:p.Asn525Ser
ENST00000367397.1:c.836A>G ENSP00000356367.1:p.Asn279Ser
ENST00000367399.6:c.2357A>G ENSP00000356369.2:p.Asn786Ser
ENST00000367400.7:c.2693A>G ENSP00000356370.3:p.Asn898Ser
ENST00000484075.5:c.2693A>G ENSP00000433932.1:p.Asn898Ser
ENST00000535699.5:c.2621A>G ENSP00000438786.1:p.Asn874Ser
ENST00000538660.5:c.2129-6135A>G ENSP00000438091.1:n.2129-6135A>G
NM_001193640.1:c.2357A>G NP_001180569.1:p.Asn786Ser
NM_001257965.1:c.2621A>G NP_001244894.1:p.Asn874Ser
NM_001257966.1:c.2129-6135A>G NP_001244895.1:n.2129-6135A>G
NM_201253.2:c.2693A>G NP_957705.1:p.Asn898Ser
NR_047563.1:n.2694A>G
NR_047564.1:n.2902A>G
XM_011509365.1:c.2693A>G XP_011507667.1:p.Asn898Ser
XM_011509366.1:c.2693A>G XP_011507668.1:p.Asn898Ser
XM_011509367.1:c.2693A>G XP_011507669.1:p.Asn898Ser
XM_011509368.1:c.2111A>G XP_011507670.1:p.Asn704Ser
XM_011509369.1:c.1136A>G XP_011507671.1:p.Asn379Ser
XM_011509365.2:c.2693A>G XP_011507667.1:p.Asn898Ser
XM_011509369.2:c.1136A>G XP_011507671.1:p.Asn379Ser
XM_017000851.1:c.1850A>G XP_016856340.1:p.Asn617Ser
XM_017000852.1:c.2828A>G XP_016856341.1:p.Asn943Ser
NM_201253.3:c.2693A>G MANE Select NP_957705.1:p.Asn898Ser
NM_001193640.2:c.2357A>G NP_001180569.1:p.Asn786Ser
NM_001257965.2:c.2621A>G NP_001244894.1:p.Asn874Ser
NR_047563.2:n.2646A>G
NR_047564.2:n.2854A>G
NM_001257966.2:c.2129-6135A>G NP_001244895.1:n.2129-6135A>G