Canonical Allele Identifier: CA344035559

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446873C>G (hg19) ; chr1:g.197477743C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477743C>G , CM000663.2:g.197477743C>G	GRCh38
NC_000001.10:g.197446873C>G , CM000663.1:g.197446873C>G	GRCh37
NC_000001.9:g.195713496C>G	NCBI36
NG_008483.1:g.214466C>G
NG_008483.2:g.281282C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4085C>G MANE Select	ENSP00000356370.3:p.Ala1362Gly
ENST00000367399.6:c.3749C>G	ENSP00000356369.2:p.Ala1250Gly
ENST00000367400.7:c.4085C>G	ENSP00000356370.3:p.Ala1362Gly
ENST00000448952.1:c.319C>G	ENSP00000395407.1:n.319C>G
ENST00000484075.5:c.*196C>G	ENSP00000433932.1:n.*196C>G
ENST00000535699.5:c.4013C>G	ENSP00000438786.1:p.Ala1338Gly
ENST00000538660.5:c.2477C>G	ENSP00000438091.1:p.Ala826Gly
NM_001193640.1:c.3749C>G	NP_001180569.1:p.Ala1250Gly
NM_001257965.1:c.4013C>G	NP_001244894.1:p.Ala1338Gly
NM_001257966.1:c.2477C>G	NP_001244895.1:p.Ala826Gly
NM_201253.2:c.4085C>G	NP_957705.1:p.Ala1362Gly
NR_047563.1:n.4086C>G
NR_047564.1:n.4536C>G
XM_011509366.1:c.*190C>G	XP_011507668.1:n.*190C>G
XM_011509367.1:c.*64C>G	XP_011507669.1:n.*64C>G
XM_011509368.1:c.3503C>G	XP_011507670.1:p.Ala1168Gly
XM_011509369.1:c.2528C>G	XP_011507671.1:p.Ala843Gly
XM_011509369.2:c.2528C>G	XP_011507671.1:p.Ala843Gly
XM_017000851.1:c.3242C>G	XP_016856340.1:p.Ala1081Gly
XM_017000852.1:c.4220C>G	XP_016856341.1:p.Ala1407Gly
NM_201253.3:c.4085C>G MANE Select	NP_957705.1:p.Ala1362Gly
NM_001193640.2:c.3749C>G	NP_001180569.1:p.Ala1250Gly
NM_001257965.2:c.4013C>G	NP_001244894.1:p.Ala1338Gly
NR_047563.2:n.4038C>G
NR_047564.2:n.4488C>G
NM_001257966.2:c.2477C>G	NP_001244895.1:p.Ala826Gly