Canonical Allele Identifier: CA344035444

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446815G>T (hg19) ; chr1:g.197477685G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477685G>T , CM000663.2:g.197477685G>T	GRCh38
NC_000001.10:g.197446815G>T , CM000663.1:g.197446815G>T	GRCh37
NC_000001.9:g.195713438G>T	NCBI36
NG_008483.1:g.214408G>T
NG_008483.2:g.281224G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4027G>T MANE Select	ENSP00000356370.3:p.Asp1343Tyr
ENST00000367399.6:c.3691G>T	ENSP00000356369.2:p.Asp1231Tyr
ENST00000367400.7:c.4027G>T	ENSP00000356370.3:p.Asp1343Tyr
ENST00000448952.1:c.261G>T	ENSP00000395407.1:n.261G>T
ENST00000484075.5:c.*138G>T	ENSP00000433932.1:n.*138G>T
ENST00000535699.5:c.3955G>T	ENSP00000438786.1:p.Asp1319Tyr
ENST00000538660.5:c.2419G>T	ENSP00000438091.1:p.Asp807Tyr
NM_001193640.1:c.3691G>T	NP_001180569.1:p.Asp1231Tyr
NM_001257965.1:c.3955G>T	NP_001244894.1:p.Asp1319Tyr
NM_001257966.1:c.2419G>T	NP_001244895.1:p.Asp807Tyr
NM_201253.2:c.4027G>T	NP_957705.1:p.Asp1343Tyr
NR_047563.1:n.4028G>T
NR_047564.1:n.4478G>T
XM_011509366.1:c.*132G>T	XP_011507668.1:n.*132G>T
XM_011509367.1:c.*6G>T	XP_011507669.1:n.*6G>T
XM_011509368.1:c.3445G>T	XP_011507670.1:p.Asp1149Tyr
XM_011509369.1:c.2470G>T	XP_011507671.1:p.Asp824Tyr
XM_011509369.2:c.2470G>T	XP_011507671.1:p.Asp824Tyr
XM_017000851.1:c.3184G>T	XP_016856340.1:p.Asp1062Tyr
XM_017000852.1:c.4162G>T	XP_016856341.1:p.Asp1388Tyr
NM_201253.3:c.4027G>T MANE Select	NP_957705.1:p.Asp1343Tyr
NM_001193640.2:c.3691G>T	NP_001180569.1:p.Asp1231Tyr
NM_001257965.2:c.3955G>T	NP_001244894.1:p.Asp1319Tyr
NR_047563.2:n.3980G>T
NR_047564.2:n.4430G>T
NM_001257966.2:c.2419G>T	NP_001244895.1:p.Asp807Tyr