Canonical Allele Identifier: CA344036654
Gene: CRB1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427538G>A , CM000663.2:g.197427538G>A GRCh38
NC_000001.10:g.197396668G>A , CM000663.1:g.197396668G>A GRCh37
NC_000001.9:g.195663291G>A NCBI36
NG_008483.1:g.164261G>A
NG_008483.2:g.231077G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2213G>A MANE Select ENSP00000356370.3:p.Ser738Asn
ENST00000638467.1:c.2213G>A ENSP00000491102.1:p.Ser738Asn
ENST00000681519.1:c.1094G>A ENSP00000505267.1:p.Ser365Asn
ENST00000367397.1:c.356G>A ENSP00000356367.1:p.Ser119Asn
ENST00000367399.6:c.1877G>A ENSP00000356369.2:p.Ser626Asn
ENST00000367400.7:c.2213G>A ENSP00000356370.3:p.Ser738Asn
ENST00000480086.2:n.114G>A
ENST00000484075.5:c.2213G>A ENSP00000433932.1:p.Ser738Asn
ENST00000535699.5:c.2006G>A ENSP00000438786.1:p.Ser669Asn
ENST00000538660.5:c.2128+5582G>A ENSP00000438091.1:n.2128+5582G>A
NM_001193640.1:c.1877G>A NP_001180569.1:p.Ser626Asn
NM_001257965.1:c.2006G>A NP_001244894.1:p.Ser669Asn
NM_001257966.1:c.2128+5582G>A NP_001244895.1:n.2128+5582G>A
NM_201253.2:c.2213G>A NP_957705.1:p.Ser738Asn
NR_047563.1:n.2214G>A
NR_047564.1:n.2422G>A
XM_011509365.1:c.2213G>A XP_011507667.1:p.Ser738Asn
XM_011509366.1:c.2213G>A XP_011507668.1:p.Ser738Asn
XM_011509367.1:c.2213G>A XP_011507669.1:p.Ser738Asn
XM_011509368.1:c.1631G>A XP_011507670.1:p.Ser544Asn
XM_011509369.1:c.656G>A XP_011507671.1:p.Ser219Asn
XM_011509365.2:c.2213G>A XP_011507667.1:p.Ser738Asn
XM_011509369.2:c.656G>A XP_011507671.1:p.Ser219Asn
XM_017000851.1:c.1370G>A XP_016856340.1:p.Ser457Asn
XM_017000852.1:c.2213G>A XP_016856341.1:p.Ser738Asn
NM_201253.3:c.2213G>A MANE Select NP_957705.1:p.Ser738Asn
NM_001193640.2:c.1877G>A NP_001180569.1:p.Ser626Asn
NM_001257965.2:c.2006G>A NP_001244894.1:p.Ser669Asn
NR_047563.2:n.2166G>A
NR_047564.2:n.2374G>A
NM_001257966.2:c.2128+5582G>A NP_001244895.1:n.2128+5582G>A