Canonical Allele Identifier: CA422808898
Gene: CRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.197396990T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427860T>A , CM000663.2:g.197427860T>A GRCh38
NC_000001.10:g.197396990T>A , CM000663.1:g.197396990T>A GRCh37
NC_000001.9:g.195663613T>A NCBI36
NG_008483.1:g.164583T>A
NG_008483.2:g.231399T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2535T>A MANE Select ENSP00000356370.3:p.Gly845=
ENST00000638467.1:c.2535T>A ENSP00000491102.1:p.Gly845=
ENST00000681519.1:c.1416T>A ENSP00000505267.1:p.Gly472=
ENST00000367397.1:c.678T>A ENSP00000356367.1:p.Gly226=
ENST00000367399.6:c.2199T>A ENSP00000356369.2:p.Gly733=
ENST00000367400.7:c.2535T>A ENSP00000356370.3:p.Gly845=
ENST00000484075.5:c.2535T>A ENSP00000433932.1:p.Gly845=
ENST00000535699.5:c.2328T>A ENSP00000438786.1:p.Gly776=
ENST00000538660.5:c.2128+5904T>A ENSP00000438091.1:n.2128+5904T>A
NM_001193640.1:c.2199T>A NP_001180569.1:p.Gly733=
NM_001257965.1:c.2328T>A NP_001244894.1:p.Gly776=
NM_001257966.1:c.2128+5904T>A NP_001244895.1:n.2128+5904T>A
NM_201253.2:c.2535T>A NP_957705.1:p.Gly845=
NR_047563.1:n.2536T>A
NR_047564.1:n.2744T>A
XM_011509365.1:c.2535T>A XP_011507667.1:p.Gly845=
XM_011509366.1:c.2535T>A XP_011507668.1:p.Gly845=
XM_011509367.1:c.2535T>A XP_011507669.1:p.Gly845=
XM_011509368.1:c.1953T>A XP_011507670.1:p.Gly651=
XM_011509369.1:c.978T>A XP_011507671.1:p.Gly326=
XM_011509365.2:c.2535T>A XP_011507667.1:p.Gly845=
XM_011509369.2:c.978T>A XP_011507671.1:p.Gly326=
XM_017000851.1:c.1692T>A XP_016856340.1:p.Gly564=
XM_017000852.1:c.2535T>A XP_016856341.1:p.Gly845=
NM_201253.3:c.2535T>A MANE Select NP_957705.1:p.Gly845=
NM_001193640.2:c.2199T>A NP_001180569.1:p.Gly733=
NM_001257965.2:c.2328T>A NP_001244894.1:p.Gly776=
NR_047563.2:n.2488T>A
NR_047564.2:n.2696T>A
NM_001257966.2:c.2128+5904T>A NP_001244895.1:n.2128+5904T>A