Canonical Allele Identifier: CA344035722

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446918G>T (hg19) ; chr1:g.197477788G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477788G>T , CM000663.2:g.197477788G>T	GRCh38
NC_000001.10:g.197446918G>T , CM000663.1:g.197446918G>T	GRCh37
NC_000001.9:g.195713541G>T	NCBI36
NG_008483.1:g.214511G>T
NG_008483.2:g.281327G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4130G>T MANE Select	ENSP00000356370.3:p.Gly1377Val
ENST00000367399.6:c.3794G>T	ENSP00000356369.2:p.Gly1265Val
ENST00000367400.7:c.4130G>T	ENSP00000356370.3:p.Gly1377Val
ENST00000448952.1:c.364G>T	ENSP00000395407.1:n.364G>T
ENST00000484075.5:c.*241G>T	ENSP00000433932.1:n.*241G>T
ENST00000535699.5:c.4058G>T	ENSP00000438786.1:p.Gly1353Val
ENST00000538660.5:c.2522G>T	ENSP00000438091.1:p.Gly841Val
NM_001193640.1:c.3794G>T	NP_001180569.1:p.Gly1265Val
NM_001257965.1:c.4058G>T	NP_001244894.1:p.Gly1353Val
NM_001257966.1:c.2522G>T	NP_001244895.1:p.Gly841Val
NM_201253.2:c.4130G>T	NP_957705.1:p.Gly1377Val
NR_047563.1:n.4131G>T
NR_047564.1:n.4581G>T
XM_011509366.1:c.*235G>T	XP_011507668.1:n.*235G>T
XM_011509367.1:c.*109G>T	XP_011507669.1:n.*109G>T
XM_011509368.1:c.3548G>T	XP_011507670.1:p.Gly1183Val
XM_011509369.1:c.2573G>T	XP_011507671.1:p.Gly858Val
XM_011509369.2:c.2573G>T	XP_011507671.1:p.Gly858Val
XM_017000851.1:c.3287G>T	XP_016856340.1:p.Gly1096Val
XM_017000852.1:c.4265G>T	XP_016856341.1:p.Gly1422Val
NM_201253.3:c.4130G>T MANE Select	NP_957705.1:p.Gly1377Val
NM_001193640.2:c.3794G>T	NP_001180569.1:p.Gly1265Val
NM_001257965.2:c.4058G>T	NP_001244894.1:p.Gly1353Val
NR_047563.2:n.4083G>T
NR_047564.2:n.4533G>T
NM_001257966.2:c.2522G>T	NP_001244895.1:p.Gly841Val