Canonical Allele Identifier: CA344030583

Gene: CRB1

Linked Data

• dbSNP Id: rs776217552
• gnomAD v2: 1-197390327-A-G
• gnomAD v4: 1-197421197-A-G
• MyVariant Identifiers: chr1:g.197390327A>G (hg19) ; chr1:g.197421197A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421197A>G , CM000663.2:g.197421197A>G	GRCh38
NC_000001.10:g.197390327A>G , CM000663.1:g.197390327A>G	GRCh37
NC_000001.9:g.195656950A>G	NCBI36
NG_008483.1:g.157920A>G
NG_008483.2:g.224736A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1369A>G MANE Select	ENSP00000356370.3:p.Ile457Val
ENST00000638467.1:c.1369A>G	ENSP00000491102.1:p.Ile457Val
ENST00000681519.1:c.250A>G	ENSP00000505267.1:p.Ile84Val
ENST00000367397.1:c.-489A>G	ENSP00000356367.1:n.-489A>G
ENST00000367399.6:c.1033A>G	ENSP00000356369.2:p.Ile345Val
ENST00000367400.7:c.1369A>G	ENSP00000356370.3:p.Ile457Val
ENST00000476483.1:n.329A>G
ENST00000484075.5:c.1369A>G	ENSP00000433932.1:p.Ile457Val
ENST00000535699.5:c.1162A>G	ENSP00000438786.1:p.Ile388Val
ENST00000538660.5:c.1369A>G	ENSP00000438091.1:p.Ile457Val
NM_001193640.1:c.1033A>G	NP_001180569.1:p.Ile345Val
NM_001257965.1:c.1162A>G	NP_001244894.1:p.Ile388Val
NM_001257966.1:c.1369A>G	NP_001244895.1:p.Ile457Val
NM_201253.2:c.1369A>G	NP_957705.1:p.Ile457Val
NR_047563.1:n.1578A>G
NR_047564.1:n.1578A>G
XM_011509365.1:c.1369A>G	XP_011507667.1:p.Ile457Val
XM_011509366.1:c.1369A>G	XP_011507668.1:p.Ile457Val
XM_011509367.1:c.1369A>G	XP_011507669.1:p.Ile457Val
XM_011509368.1:c.787A>G	XP_011507670.1:p.Ile263Val
XM_011509369.1:c.-189A>G	XP_011507671.1:n.-189A>G
XM_011509365.2:c.1369A>G	XP_011507667.1:p.Ile457Val
XM_011509369.2:c.-189A>G	XP_011507671.1:n.-189A>G
XM_017000851.1:c.526A>G	XP_016856340.1:p.Ile176Val
XM_017000852.1:c.1369A>G	XP_016856341.1:p.Ile457Val
NM_201253.3:c.1369A>G MANE Select	NP_957705.1:p.Ile457Val
NM_001193640.2:c.1033A>G	NP_001180569.1:p.Ile345Val
NM_001257965.2:c.1162A>G	NP_001244894.1:p.Ile388Val
NR_047563.2:n.1530A>G
NR_047564.2:n.1530A>G
NM_001257966.2:c.1369A>G	NP_001244895.1:p.Ile457Val