Canonical Allele Identifier: CA344047423

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404366T>G (hg19) ; chr1:g.197435236T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435236T>G , CM000663.2:g.197435236T>G	GRCh38
NC_000001.10:g.197404366T>G , CM000663.1:g.197404366T>G	GRCh37
NC_000001.9:g.195670989T>G	NCBI36
NG_008483.1:g.171959T>G
NG_008483.2:g.238775T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3373T>G MANE Select	ENSP00000356370.3:p.Phe1125Val
ENST00000638467.1:c.3373T>G	ENSP00000491102.1:p.Phe1125Val
ENST00000681519.1:c.2254T>G	ENSP00000505267.1:p.Phe752Val
ENST00000367397.1:c.1516T>G	ENSP00000356367.1:p.Phe506Val
ENST00000367399.6:c.3037T>G	ENSP00000356369.2:p.Phe1013Val
ENST00000367400.7:c.3373T>G	ENSP00000356370.3:p.Phe1125Val
ENST00000484075.5:c.3373T>G	ENSP00000433932.1:p.Phe1125Val
ENST00000535699.5:c.3301T>G	ENSP00000438786.1:p.Phe1101Val
ENST00000538660.5:c.2129-364T>G	ENSP00000438091.1:n.2129-364T>G
NM_001193640.1:c.3037T>G	NP_001180569.1:p.Phe1013Val
NM_001257965.1:c.3301T>G	NP_001244894.1:p.Phe1101Val
NM_001257966.1:c.2129-364T>G	NP_001244895.1:n.2129-364T>G
NM_201253.2:c.3373T>G	NP_957705.1:p.Phe1125Val
NR_047563.1:n.3374T>G
NR_047564.1:n.3582T>G
XM_011509365.1:c.3373T>G	XP_011507667.1:p.Phe1125Val
XM_011509366.1:c.3373T>G	XP_011507668.1:p.Phe1125Val
XM_011509367.1:c.3373T>G	XP_011507669.1:p.Phe1125Val
XM_011509368.1:c.2791T>G	XP_011507670.1:p.Phe931Val
XM_011509369.1:c.1816T>G	XP_011507671.1:p.Phe606Val
XM_011509365.2:c.3373T>G	XP_011507667.1:p.Phe1125Val
XM_011509369.2:c.1816T>G	XP_011507671.1:p.Phe606Val
XM_017000851.1:c.2530T>G	XP_016856340.1:p.Phe844Val
XM_017000852.1:c.3508T>G	XP_016856341.1:p.Phe1170Val
NM_201253.3:c.3373T>G MANE Select	NP_957705.1:p.Phe1125Val
NM_001193640.2:c.3037T>G	NP_001180569.1:p.Phe1013Val
NM_001257965.2:c.3301T>G	NP_001244894.1:p.Phe1101Val
NR_047563.2:n.3326T>G
NR_047564.2:n.3534T>G
NM_001257966.2:c.2129-364T>G	NP_001244895.1:n.2129-364T>G