Canonical Allele Identifier: CA344035576

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446882C>G (hg19) ; chr1:g.197477752C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477752C>G , CM000663.2:g.197477752C>G	GRCh38
NC_000001.10:g.197446882C>G , CM000663.1:g.197446882C>G	GRCh37
NC_000001.9:g.195713505C>G	NCBI36
NG_008483.1:g.214475C>G
NG_008483.2:g.281291C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4094C>G MANE Select	ENSP00000356370.3:p.Ala1365Gly
ENST00000367399.6:c.3758C>G	ENSP00000356369.2:p.Ala1253Gly
ENST00000367400.7:c.4094C>G	ENSP00000356370.3:p.Ala1365Gly
ENST00000448952.1:c.328C>G	ENSP00000395407.1:n.328C>G
ENST00000484075.5:c.*205C>G	ENSP00000433932.1:n.*205C>G
ENST00000535699.5:c.4022C>G	ENSP00000438786.1:p.Ala1341Gly
ENST00000538660.5:c.2486C>G	ENSP00000438091.1:p.Ala829Gly
NM_001193640.1:c.3758C>G	NP_001180569.1:p.Ala1253Gly
NM_001257965.1:c.4022C>G	NP_001244894.1:p.Ala1341Gly
NM_001257966.1:c.2486C>G	NP_001244895.1:p.Ala829Gly
NM_201253.2:c.4094C>G	NP_957705.1:p.Ala1365Gly
NR_047563.1:n.4095C>G
NR_047564.1:n.4545C>G
XM_011509366.1:c.*199C>G	XP_011507668.1:n.*199C>G
XM_011509367.1:c.*73C>G	XP_011507669.1:n.*73C>G
XM_011509368.1:c.3512C>G	XP_011507670.1:p.Ala1171Gly
XM_011509369.1:c.2537C>G	XP_011507671.1:p.Ala846Gly
XM_011509369.2:c.2537C>G	XP_011507671.1:p.Ala846Gly
XM_017000851.1:c.3251C>G	XP_016856340.1:p.Ala1084Gly
XM_017000852.1:c.4229C>G	XP_016856341.1:p.Ala1410Gly
NM_201253.3:c.4094C>G MANE Select	NP_957705.1:p.Ala1365Gly
NM_001193640.2:c.3758C>G	NP_001180569.1:p.Ala1253Gly
NM_001257965.2:c.4022C>G	NP_001244894.1:p.Ala1341Gly
NR_047563.2:n.4047C>G
NR_047564.2:n.4497C>G
NM_001257966.2:c.2486C>G	NP_001244895.1:p.Ala829Gly