Canonical Allele Identifier: CA344043483

Gene: CRB1

Linked Data

• ClinVar Variation Id: 987281
• ClinVar RCV Id: RCV001268598
• dbSNP Id: rs1665045248
• COSMIC: COSM901775
• MyVariant Identifiers: chr1:g.197403907G>T (hg19) ; chr1:g.197434777G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434777G>T , CM000663.2:g.197434777G>T	GRCh38
NC_000001.10:g.197403907G>T , CM000663.1:g.197403907G>T	GRCh37
NC_000001.9:g.195670530G>T	NCBI36
NG_008483.1:g.171500G>T
NG_008483.2:g.238316G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2914G>T MANE Select	ENSP00000356370.3:p.Glu972Ter
ENST00000638467.1:c.2914G>T	ENSP00000491102.1:p.Glu972Ter
ENST00000681519.1:c.1795G>T	ENSP00000505267.1:p.Glu599Ter
ENST00000367397.1:c.1057G>T	ENSP00000356367.1:p.Glu353Ter
ENST00000367399.6:c.2578G>T	ENSP00000356369.2:p.Glu860Ter
ENST00000367400.7:c.2914G>T	ENSP00000356370.3:p.Glu972Ter
ENST00000484075.5:c.2914G>T	ENSP00000433932.1:p.Glu972Ter
ENST00000535699.5:c.2842G>T	ENSP00000438786.1:p.Glu948Ter
ENST00000538660.5:c.2129-823G>T	ENSP00000438091.1:n.2129-823G>T
NM_001193640.1:c.2578G>T	NP_001180569.1:p.Glu860Ter
NM_001257965.1:c.2842G>T	NP_001244894.1:p.Glu948Ter
NM_001257966.1:c.2129-823G>T	NP_001244895.1:n.2129-823G>T
NM_201253.2:c.2914G>T	NP_957705.1:p.Glu972Ter
NR_047563.1:n.2915G>T
NR_047564.1:n.3123G>T
XM_011509365.1:c.2914G>T	XP_011507667.1:p.Glu972Ter
XM_011509366.1:c.2914G>T	XP_011507668.1:p.Glu972Ter
XM_011509367.1:c.2914G>T	XP_011507669.1:p.Glu972Ter
XM_011509368.1:c.2332G>T	XP_011507670.1:p.Glu778Ter
XM_011509369.1:c.1357G>T	XP_011507671.1:p.Glu453Ter
XM_011509365.2:c.2914G>T	XP_011507667.1:p.Glu972Ter
XM_011509369.2:c.1357G>T	XP_011507671.1:p.Glu453Ter
XM_017000851.1:c.2071G>T	XP_016856340.1:p.Glu691Ter
XM_017000852.1:c.3049G>T	XP_016856341.1:p.Glu1017Ter
NM_201253.3:c.2914G>T MANE Select	NP_957705.1:p.Glu972Ter
NM_001193640.2:c.2578G>T	NP_001180569.1:p.Glu860Ter
NM_001257965.2:c.2842G>T	NP_001244894.1:p.Glu948Ter
NR_047563.2:n.2867G>T
NR_047564.2:n.3075G>T
NM_001257966.2:c.2129-823G>T	NP_001244895.1:n.2129-823G>T