Canonical Allele Identifier: CA344030916

Gene: CRB1

Linked Data

• gnomAD v4: 1-197421269-G-A
• COSMIC: COSM3863990 ; COSM3863991
• MyVariant Identifiers: chr1:g.197390399G>A (hg19) ; chr1:g.197421269G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421269G>A , CM000663.2:g.197421269G>A	GRCh38
NC_000001.10:g.197390399G>A , CM000663.1:g.197390399G>A	GRCh37
NC_000001.9:g.195657022G>A	NCBI36
NG_008483.1:g.157992G>A
NG_008483.2:g.224808G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1441G>A MANE Select	ENSP00000356370.3:p.Glu481Lys
ENST00000638467.1:c.1441G>A	ENSP00000491102.1:p.Glu481Lys
ENST00000681519.1:c.322G>A	ENSP00000505267.1:p.Glu108Lys
ENST00000367397.1:c.-417G>A	ENSP00000356367.1:n.-417G>A
ENST00000367399.6:c.1105G>A	ENSP00000356369.2:p.Glu369Lys
ENST00000367400.7:c.1441G>A	ENSP00000356370.3:p.Glu481Lys
ENST00000476483.1:n.401G>A
ENST00000484075.5:c.1441G>A	ENSP00000433932.1:p.Glu481Lys
ENST00000535699.5:c.1234G>A	ENSP00000438786.1:p.Glu412Lys
ENST00000538660.5:c.1441G>A	ENSP00000438091.1:p.Glu481Lys
NM_001193640.1:c.1105G>A	NP_001180569.1:p.Glu369Lys
NM_001257965.1:c.1234G>A	NP_001244894.1:p.Glu412Lys
NM_001257966.1:c.1441G>A	NP_001244895.1:p.Glu481Lys
NM_201253.2:c.1441G>A	NP_957705.1:p.Glu481Lys
NR_047563.1:n.1650G>A
NR_047564.1:n.1650G>A
XM_011509365.1:c.1441G>A	XP_011507667.1:p.Glu481Lys
XM_011509366.1:c.1441G>A	XP_011507668.1:p.Glu481Lys
XM_011509367.1:c.1441G>A	XP_011507669.1:p.Glu481Lys
XM_011509368.1:c.859G>A	XP_011507670.1:p.Glu287Lys
XM_011509369.1:c.-117G>A	XP_011507671.1:n.-117G>A
XM_011509365.2:c.1441G>A	XP_011507667.1:p.Glu481Lys
XM_011509369.2:c.-117G>A	XP_011507671.1:n.-117G>A
XM_017000851.1:c.598G>A	XP_016856340.1:p.Glu200Lys
XM_017000852.1:c.1441G>A	XP_016856341.1:p.Glu481Lys
NM_201253.3:c.1441G>A MANE Select	NP_957705.1:p.Glu481Lys
NM_001193640.2:c.1105G>A	NP_001180569.1:p.Glu369Lys
NM_001257965.2:c.1234G>A	NP_001244894.1:p.Glu412Lys
NR_047563.2:n.1602G>A
NR_047564.2:n.1602G>A
NM_001257966.2:c.1441G>A	NP_001244895.1:p.Glu481Lys