Canonical Allele Identifier: CA422677608

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477852-A-G
• MyVariant Identifiers: chr1:g.197446982A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477852A>G , CM000663.2:g.197477852A>G	GRCh38
NC_000001.10:g.197446982A>G , CM000663.1:g.197446982A>G	GRCh37
NC_000001.9:g.195713605A>G	NCBI36
NG_008483.1:g.214575A>G
NG_008483.2:g.281391A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4194A>G MANE Select	ENSP00000356370.3:p.Pro1398=
ENST00000367399.6:c.3858A>G	ENSP00000356369.2:p.Pro1286=
ENST00000367400.7:c.4194A>G	ENSP00000356370.3:p.Pro1398=
ENST00000448952.1:c.428A>G	ENSP00000395407.1:n.428A>G
ENST00000484075.5:c.*305A>G	ENSP00000433932.1:n.*305A>G
ENST00000535699.5:c.4122A>G	ENSP00000438786.1:p.Pro1374=
ENST00000538660.5:c.2586A>G	ENSP00000438091.1:p.Pro862=
NM_001193640.1:c.3858A>G	NP_001180569.1:p.Pro1286=
NM_001257965.1:c.4122A>G	NP_001244894.1:p.Pro1374=
NM_001257966.1:c.2586A>G	NP_001244895.1:p.Pro862=
NM_201253.2:c.4194A>G	NP_957705.1:p.Pro1398=
NR_047563.1:n.4195A>G
NR_047564.1:n.4645A>G
XM_011509366.1:c.*299A>G	XP_011507668.1:n.*299A>G
XM_011509367.1:c.*173A>G	XP_011507669.1:n.*173A>G
XM_011509368.1:c.3612A>G	XP_011507670.1:p.Pro1204=
XM_011509369.1:c.2637A>G	XP_011507671.1:p.Pro879=
XM_011509369.2:c.2637A>G	XP_011507671.1:p.Pro879=
XM_017000851.1:c.3351A>G	XP_016856340.1:p.Pro1117=
XM_017000852.1:c.4329A>G	XP_016856341.1:p.Pro1443=
NM_201253.3:c.4194A>G MANE Select	NP_957705.1:p.Pro1398=
NM_001193640.2:c.3858A>G	NP_001180569.1:p.Pro1286=
NM_001257965.2:c.4122A>G	NP_001244894.1:p.Pro1374=
NR_047563.2:n.4147A>G
NR_047564.2:n.4597A>G
NM_001257966.2:c.2586A>G	NP_001244895.1:p.Pro862=