Canonical Allele Identifier: CA344035512

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446849C>G (hg19) ; chr1:g.197477719C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477719C>G , CM000663.2:g.197477719C>G	GRCh38
NC_000001.10:g.197446849C>G , CM000663.1:g.197446849C>G	GRCh37
NC_000001.9:g.195713472C>G	NCBI36
NG_008483.1:g.214442C>G
NG_008483.2:g.281258C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4061C>G MANE Select	ENSP00000356370.3:p.Ala1354Gly
ENST00000367399.6:c.3725C>G	ENSP00000356369.2:p.Ala1242Gly
ENST00000367400.7:c.4061C>G	ENSP00000356370.3:p.Ala1354Gly
ENST00000448952.1:c.295C>G	ENSP00000395407.1:n.295C>G
ENST00000484075.5:c.*172C>G	ENSP00000433932.1:n.*172C>G
ENST00000535699.5:c.3989C>G	ENSP00000438786.1:p.Ala1330Gly
ENST00000538660.5:c.2453C>G	ENSP00000438091.1:p.Ala818Gly
NM_001193640.1:c.3725C>G	NP_001180569.1:p.Ala1242Gly
NM_001257965.1:c.3989C>G	NP_001244894.1:p.Ala1330Gly
NM_001257966.1:c.2453C>G	NP_001244895.1:p.Ala818Gly
NM_201253.2:c.4061C>G	NP_957705.1:p.Ala1354Gly
NR_047563.1:n.4062C>G
NR_047564.1:n.4512C>G
XM_011509366.1:c.*166C>G	XP_011507668.1:n.*166C>G
XM_011509367.1:c.*40C>G	XP_011507669.1:n.*40C>G
XM_011509368.1:c.3479C>G	XP_011507670.1:p.Ala1160Gly
XM_011509369.1:c.2504C>G	XP_011507671.1:p.Ala835Gly
XM_011509369.2:c.2504C>G	XP_011507671.1:p.Ala835Gly
XM_017000851.1:c.3218C>G	XP_016856340.1:p.Ala1073Gly
XM_017000852.1:c.4196C>G	XP_016856341.1:p.Ala1399Gly
NM_201253.3:c.4061C>G MANE Select	NP_957705.1:p.Ala1354Gly
NM_001193640.2:c.3725C>G	NP_001180569.1:p.Ala1242Gly
NM_001257965.2:c.3989C>G	NP_001244894.1:p.Ala1330Gly
NR_047563.2:n.4014C>G
NR_047564.2:n.4464C>G
NM_001257966.2:c.2453C>G	NP_001244895.1:p.Ala818Gly