Canonical Allele Identifier: CA344036040

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477857-C-G
• MyVariant Identifiers: chr1:g.197446987C>G (hg19) ; chr1:g.197477857C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477857C>G , CM000663.2:g.197477857C>G	GRCh38
NC_000001.10:g.197446987C>G , CM000663.1:g.197446987C>G	GRCh37
NC_000001.9:g.195713610C>G	NCBI36
NG_008483.1:g.214580C>G
NG_008483.2:g.281396C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4199C>G MANE Select	ENSP00000356370.3:p.Pro1400Arg
ENST00000367399.6:c.3863C>G	ENSP00000356369.2:p.Pro1288Arg
ENST00000367400.7:c.4199C>G	ENSP00000356370.3:p.Pro1400Arg
ENST00000448952.1:c.433C>G	ENSP00000395407.1:n.433C>G
ENST00000484075.5:c.*310C>G	ENSP00000433932.1:n.*310C>G
ENST00000535699.5:c.4127C>G	ENSP00000438786.1:p.Pro1376Arg
ENST00000538660.5:c.2591C>G	ENSP00000438091.1:p.Pro864Arg
NM_001193640.1:c.3863C>G	NP_001180569.1:p.Pro1288Arg
NM_001257965.1:c.4127C>G	NP_001244894.1:p.Pro1376Arg
NM_001257966.1:c.2591C>G	NP_001244895.1:p.Pro864Arg
NM_201253.2:c.4199C>G	NP_957705.1:p.Pro1400Arg
NR_047563.1:n.4200C>G
NR_047564.1:n.4650C>G
XM_011509366.1:c.*304C>G	XP_011507668.1:n.*304C>G
XM_011509367.1:c.*178C>G	XP_011507669.1:n.*178C>G
XM_011509368.1:c.3617C>G	XP_011507670.1:p.Pro1206Arg
XM_011509369.1:c.2642C>G	XP_011507671.1:p.Pro881Arg
XM_011509369.2:c.2642C>G	XP_011507671.1:p.Pro881Arg
XM_017000851.1:c.3356C>G	XP_016856340.1:p.Pro1119Arg
XM_017000852.1:c.4334C>G	XP_016856341.1:p.Pro1445Arg
NM_201253.3:c.4199C>G MANE Select	NP_957705.1:p.Pro1400Arg
NM_001193640.2:c.3863C>G	NP_001180569.1:p.Pro1288Arg
NM_001257965.2:c.4127C>G	NP_001244894.1:p.Pro1376Arg
NR_047563.2:n.4152C>G
NR_047564.2:n.4602C>G
NM_001257966.2:c.2591C>G	NP_001244895.1:p.Pro864Arg