Canonical Allele Identifier: CA344035402

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446801A>T (hg19) ; chr1:g.197477671A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477671A>T , CM000663.2:g.197477671A>T	GRCh38
NC_000001.10:g.197446801A>T , CM000663.1:g.197446801A>T	GRCh37
NC_000001.9:g.195713424A>T	NCBI36
NG_008483.1:g.214394A>T
NG_008483.2:g.281210A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4013A>T MANE Select	ENSP00000356370.3:p.Asp1338Val
ENST00000367399.6:c.3677A>T	ENSP00000356369.2:p.Asp1226Val
ENST00000367400.7:c.4013A>T	ENSP00000356370.3:p.Asp1338Val
ENST00000448952.1:c.247A>T	ENSP00000395407.1:n.247A>T
ENST00000484075.5:c.*124A>T	ENSP00000433932.1:n.*124A>T
ENST00000535699.5:c.3941A>T	ENSP00000438786.1:p.Asp1314Val
ENST00000538660.5:c.2405A>T	ENSP00000438091.1:p.Asp802Val
NM_001193640.1:c.3677A>T	NP_001180569.1:p.Asp1226Val
NM_001257965.1:c.3941A>T	NP_001244894.1:p.Asp1314Val
NM_001257966.1:c.2405A>T	NP_001244895.1:p.Asp802Val
NM_201253.2:c.4013A>T	NP_957705.1:p.Asp1338Val
NR_047563.1:n.4014A>T
NR_047564.1:n.4464A>T
XM_011509366.1:c.*118A>T	XP_011507668.1:n.*118A>T
XM_011509367.1:c.3886A>T	XP_011507669.1:p.Met1296Leu
XM_011509368.1:c.3431A>T	XP_011507670.1:p.Asp1144Val
XM_011509369.1:c.2456A>T	XP_011507671.1:p.Asp819Val
XM_011509369.2:c.2456A>T	XP_011507671.1:p.Asp819Val
XM_017000851.1:c.3170A>T	XP_016856340.1:p.Asp1057Val
XM_017000852.1:c.4148A>T	XP_016856341.1:p.Asp1383Val
NM_201253.3:c.4013A>T MANE Select	NP_957705.1:p.Asp1338Val
NM_001193640.2:c.3677A>T	NP_001180569.1:p.Asp1226Val
NM_001257965.2:c.3941A>T	NP_001244894.1:p.Asp1314Val
NR_047563.2:n.3966A>T
NR_047564.2:n.4416A>T
NM_001257966.2:c.2405A>T	NP_001244895.1:p.Asp802Val