Canonical Allele Identifier: CA344035448

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446817C>A (hg19) ; chr1:g.197477687C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477687C>A , CM000663.2:g.197477687C>A	GRCh38
NC_000001.10:g.197446817C>A , CM000663.1:g.197446817C>A	GRCh37
NC_000001.9:g.195713440C>A	NCBI36
NG_008483.1:g.214410C>A
NG_008483.2:g.281226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4029C>A MANE Select	ENSP00000356370.3:p.Asp1343Glu
ENST00000367399.6:c.3693C>A	ENSP00000356369.2:p.Asp1231Glu
ENST00000367400.7:c.4029C>A	ENSP00000356370.3:p.Asp1343Glu
ENST00000448952.1:c.263C>A	ENSP00000395407.1:n.263C>A
ENST00000484075.5:c.*140C>A	ENSP00000433932.1:n.*140C>A
ENST00000535699.5:c.3957C>A	ENSP00000438786.1:p.Asp1319Glu
ENST00000538660.5:c.2421C>A	ENSP00000438091.1:p.Asp807Glu
NM_001193640.1:c.3693C>A	NP_001180569.1:p.Asp1231Glu
NM_001257965.1:c.3957C>A	NP_001244894.1:p.Asp1319Glu
NM_001257966.1:c.2421C>A	NP_001244895.1:p.Asp807Glu
NM_201253.2:c.4029C>A	NP_957705.1:p.Asp1343Glu
NR_047563.1:n.4030C>A
NR_047564.1:n.4480C>A
XM_011509366.1:c.*134C>A	XP_011507668.1:n.*134C>A
XM_011509367.1:c.*8C>A	XP_011507669.1:n.*8C>A
XM_011509368.1:c.3447C>A	XP_011507670.1:p.Asp1149Glu
XM_011509369.1:c.2472C>A	XP_011507671.1:p.Asp824Glu
XM_011509369.2:c.2472C>A	XP_011507671.1:p.Asp824Glu
XM_017000851.1:c.3186C>A	XP_016856340.1:p.Asp1062Glu
XM_017000852.1:c.4164C>A	XP_016856341.1:p.Asp1388Glu
NM_201253.3:c.4029C>A MANE Select	NP_957705.1:p.Asp1343Glu
NM_001193640.2:c.3693C>A	NP_001180569.1:p.Asp1231Glu
NM_001257965.2:c.3957C>A	NP_001244894.1:p.Asp1319Glu
NR_047563.2:n.3982C>A
NR_047564.2:n.4432C>A
NM_001257966.2:c.2421C>A	NP_001244895.1:p.Asp807Glu