Canonical Allele Identifier: CA344043499

Gene: CRB1

Linked Data

• gnomAD v4: 1-197434778-A-G
• COSMIC: COSM678308
• MyVariant Identifiers: chr1:g.197403908A>G (hg19) ; chr1:g.197434778A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434778A>G , CM000663.2:g.197434778A>G	GRCh38
NC_000001.10:g.197403908A>G , CM000663.1:g.197403908A>G	GRCh37
NC_000001.9:g.195670531A>G	NCBI36
NG_008483.1:g.171501A>G
NG_008483.2:g.238317A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2915A>G MANE Select	ENSP00000356370.3:p.Glu972Gly
ENST00000638467.1:c.2915A>G	ENSP00000491102.1:p.Glu972Gly
ENST00000681519.1:c.1796A>G	ENSP00000505267.1:p.Glu599Gly
ENST00000367397.1:c.1058A>G	ENSP00000356367.1:p.Glu353Gly
ENST00000367399.6:c.2579A>G	ENSP00000356369.2:p.Glu860Gly
ENST00000367400.7:c.2915A>G	ENSP00000356370.3:p.Glu972Gly
ENST00000484075.5:c.2915A>G	ENSP00000433932.1:p.Glu972Gly
ENST00000535699.5:c.2843A>G	ENSP00000438786.1:p.Glu948Gly
ENST00000538660.5:c.2129-822A>G	ENSP00000438091.1:n.2129-822A>G
NM_001193640.1:c.2579A>G	NP_001180569.1:p.Glu860Gly
NM_001257965.1:c.2843A>G	NP_001244894.1:p.Glu948Gly
NM_001257966.1:c.2129-822A>G	NP_001244895.1:n.2129-822A>G
NM_201253.2:c.2915A>G	NP_957705.1:p.Glu972Gly
NR_047563.1:n.2916A>G
NR_047564.1:n.3124A>G
XM_011509365.1:c.2915A>G	XP_011507667.1:p.Glu972Gly
XM_011509366.1:c.2915A>G	XP_011507668.1:p.Glu972Gly
XM_011509367.1:c.2915A>G	XP_011507669.1:p.Glu972Gly
XM_011509368.1:c.2333A>G	XP_011507670.1:p.Glu778Gly
XM_011509369.1:c.1358A>G	XP_011507671.1:p.Glu453Gly
XM_011509365.2:c.2915A>G	XP_011507667.1:p.Glu972Gly
XM_011509369.2:c.1358A>G	XP_011507671.1:p.Glu453Gly
XM_017000851.1:c.2072A>G	XP_016856340.1:p.Glu691Gly
XM_017000852.1:c.3050A>G	XP_016856341.1:p.Glu1017Gly
NM_201253.3:c.2915A>G MANE Select	NP_957705.1:p.Glu972Gly
NM_001193640.2:c.2579A>G	NP_001180569.1:p.Glu860Gly
NM_001257965.2:c.2843A>G	NP_001244894.1:p.Glu948Gly
NR_047563.2:n.2868A>G
NR_047564.2:n.3076A>G
NM_001257966.2:c.2129-822A>G	NP_001244895.1:n.2129-822A>G