Canonical Allele Identifier: CA344084582

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197356967C>G , CM000663.2:g.197356967C>G	GRCh38
NC_000001.10:g.197326097C>G , CM000663.1:g.197326097C>G	GRCh37
NC_000001.9:g.195592720C>G	NCBI36
NG_008483.1:g.93690C>G
NG_008483.2:g.160506C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.1125C>G MANE Select	NP_957705.1:p.Tyr375Ter
ENST00000367400.8:c.1125C>G MANE Select	ENSP00000356370.3:p.Tyr375Ter
NM_001193640.1:c.789C>G	NP_001180569.1:p.Tyr263Ter
NM_001193640.2:c.789C>G	NP_001180569.1:p.Tyr263Ter
NM_001257965.1:c.918C>G	NP_001244894.1:p.Tyr306Ter
NM_001257965.2:c.918C>G	NP_001244894.1:p.Tyr306Ter
NM_001257966.1:c.1125C>G	NP_001244895.1:p.Tyr375Ter
NM_001257966.2:c.1125C>G	NP_001244895.1:p.Tyr375Ter
NM_201253.2:c.1125C>G	NP_957705.1:p.Tyr375Ter
NR_047563.1:n.1334C>G
NR_047563.2:n.1286C>G
NR_047564.1:n.1334C>G
NR_047564.2:n.1286C>G
ENST00000367399.6:c.789C>G	ENSP00000356369.2:p.Tyr263Ter
ENST00000367400.7:c.1125C>G	ENSP00000356370.3:p.Tyr375Ter
ENST00000475659.1:n.1262C>G
ENST00000484075.5:c.1125C>G	ENSP00000433932.1:p.Tyr375Ter
ENST00000535699.5:c.918C>G	ENSP00000438786.1:p.Tyr306Ter
ENST00000538660.5:c.1125C>G	ENSP00000438091.1:p.Tyr375Ter
ENST00000638467.1:c.1125C>G	ENSP00000491102.1:p.Tyr375Ter
XM_011509365.1:c.1125C>G	XP_011507667.1:p.Tyr375Ter
XM_011509365.2:c.1125C>G	XP_011507667.1:p.Tyr375Ter
XM_011509366.1:c.1125C>G	XP_011507668.1:p.Tyr375Ter
XM_011509367.1:c.1125C>G	XP_011507669.1:p.Tyr375Ter
XM_011509368.1:c.543C>G	XP_011507670.1:p.Tyr181Ter
XM_017000851.1:c.282C>G	XP_016856340.1:p.Tyr94Ter
XM_017000852.1:c.1125C>G	XP_016856341.1:p.Tyr375Ter