Canonical Allele Identifier: CA344036024

Gene: CRB1

Linked Data

• dbSNP Id: rs1241106990
• MyVariant Identifiers: chr1:g.197446983C>G (hg19) ; chr1:g.197477853C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477853C>G , CM000663.2:g.197477853C>G	GRCh38
NC_000001.10:g.197446983C>G , CM000663.1:g.197446983C>G	GRCh37
NC_000001.9:g.195713606C>G	NCBI36
NG_008483.1:g.214576C>G
NG_008483.2:g.281392C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4195C>G MANE Select	ENSP00000356370.3:p.Pro1399Ala
ENST00000367399.6:c.3859C>G	ENSP00000356369.2:p.Pro1287Ala
ENST00000367400.7:c.4195C>G	ENSP00000356370.3:p.Pro1399Ala
ENST00000448952.1:c.429C>G	ENSP00000395407.1:n.429C>G
ENST00000484075.5:c.*306C>G	ENSP00000433932.1:n.*306C>G
ENST00000535699.5:c.4123C>G	ENSP00000438786.1:p.Pro1375Ala
ENST00000538660.5:c.2587C>G	ENSP00000438091.1:p.Pro863Ala
NM_001193640.1:c.3859C>G	NP_001180569.1:p.Pro1287Ala
NM_001257965.1:c.4123C>G	NP_001244894.1:p.Pro1375Ala
NM_001257966.1:c.2587C>G	NP_001244895.1:p.Pro863Ala
NM_201253.2:c.4195C>G	NP_957705.1:p.Pro1399Ala
NR_047563.1:n.4196C>G
NR_047564.1:n.4646C>G
XM_011509366.1:c.*300C>G	XP_011507668.1:n.*300C>G
XM_011509367.1:c.*174C>G	XP_011507669.1:n.*174C>G
XM_011509368.1:c.3613C>G	XP_011507670.1:p.Pro1205Ala
XM_011509369.1:c.2638C>G	XP_011507671.1:p.Pro880Ala
XM_011509369.2:c.2638C>G	XP_011507671.1:p.Pro880Ala
XM_017000851.1:c.3352C>G	XP_016856340.1:p.Pro1118Ala
XM_017000852.1:c.4330C>G	XP_016856341.1:p.Pro1444Ala
NM_201253.3:c.4195C>G MANE Select	NP_957705.1:p.Pro1399Ala
NM_001193640.2:c.3859C>G	NP_001180569.1:p.Pro1287Ala
NM_001257965.2:c.4123C>G	NP_001244894.1:p.Pro1375Ala
NR_047563.2:n.4148C>G
NR_047564.2:n.4598C>G
NM_001257966.2:c.2587C>G	NP_001244895.1:p.Pro863Ala