Canonical Allele Identifier: CA344035412

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446803G>T (hg19) ; chr1:g.197477673G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477673G>T , CM000663.2:g.197477673G>T	GRCh38
NC_000001.10:g.197446803G>T , CM000663.1:g.197446803G>T	GRCh37
NC_000001.9:g.195713426G>T	NCBI36
NG_008483.1:g.214396G>T
NG_008483.2:g.281212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4015G>T MANE Select	ENSP00000356370.3:p.Asp1339Tyr
ENST00000367399.6:c.3679G>T	ENSP00000356369.2:p.Asp1227Tyr
ENST00000367400.7:c.4015G>T	ENSP00000356370.3:p.Asp1339Tyr
ENST00000448952.1:c.249G>T	ENSP00000395407.1:n.249G>T
ENST00000484075.5:c.*126G>T	ENSP00000433932.1:n.*126G>T
ENST00000535699.5:c.3943G>T	ENSP00000438786.1:p.Asp1315Tyr
ENST00000538660.5:c.2407G>T	ENSP00000438091.1:p.Asp803Tyr
NM_001193640.1:c.3679G>T	NP_001180569.1:p.Asp1227Tyr
NM_001257965.1:c.3943G>T	NP_001244894.1:p.Asp1315Tyr
NM_001257966.1:c.2407G>T	NP_001244895.1:p.Asp803Tyr
NM_201253.2:c.4015G>T	NP_957705.1:p.Asp1339Tyr
NR_047563.1:n.4016G>T
NR_047564.1:n.4466G>T
XM_011509366.1:c.*120G>T	XP_011507668.1:n.*120G>T
XM_011509367.1:c.3888G>T	XP_011507669.1:p.Met1296Ile
XM_011509368.1:c.3433G>T	XP_011507670.1:p.Asp1145Tyr
XM_011509369.1:c.2458G>T	XP_011507671.1:p.Asp820Tyr
XM_011509369.2:c.2458G>T	XP_011507671.1:p.Asp820Tyr
XM_017000851.1:c.3172G>T	XP_016856340.1:p.Asp1058Tyr
XM_017000852.1:c.4150G>T	XP_016856341.1:p.Asp1384Tyr
NM_201253.3:c.4015G>T MANE Select	NP_957705.1:p.Asp1339Tyr
NM_001193640.2:c.3679G>T	NP_001180569.1:p.Asp1227Tyr
NM_001257965.2:c.3943G>T	NP_001244894.1:p.Asp1315Tyr
NR_047563.2:n.3968G>T
NR_047564.2:n.4418G>T
NM_001257966.2:c.2407G>T	NP_001244895.1:p.Asp803Tyr