Canonical Allele Identifier: CA422808264

Gene: CRB1

Linked Data

• ClinVar Variation Id: 795470
• ClinVar RCV Id: RCV001460512
• dbSNP Id: rs1571523693
• gnomAD v4: 1-197421367-G-A
• COSMIC: COSM3481064
• MyVariant Identifiers: chr1:g.197390497G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421367G>A , CM000663.2:g.197421367G>A	GRCh38
NC_000001.10:g.197390497G>A , CM000663.1:g.197390497G>A	GRCh37
NC_000001.9:g.195657120G>A	NCBI36
NG_008483.1:g.158090G>A
NG_008483.2:g.224906G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.1539G>A MANE Select	ENSP00000356370.3:p.Arg513=
ENST00000638467.1:c.1539G>A	ENSP00000491102.1:p.Arg513=
ENST00000681519.1:c.420G>A	ENSP00000505267.1:p.Arg140=
ENST00000367397.1:c.-319G>A	ENSP00000356367.1:n.-319G>A
ENST00000367399.6:c.1203G>A	ENSP00000356369.2:p.Arg401=
ENST00000367400.7:c.1539G>A	ENSP00000356370.3:p.Arg513=
ENST00000476483.1:n.499G>A
ENST00000484075.5:c.1539G>A	ENSP00000433932.1:p.Arg513=
ENST00000535699.5:c.1332G>A	ENSP00000438786.1:p.Arg444=
ENST00000538660.5:c.1539G>A	ENSP00000438091.1:p.Arg513=
NM_001193640.1:c.1203G>A	NP_001180569.1:p.Arg401=
NM_001257965.1:c.1332G>A	NP_001244894.1:p.Arg444=
NM_001257966.1:c.1539G>A	NP_001244895.1:p.Arg513=
NM_201253.2:c.1539G>A	NP_957705.1:p.Arg513=
NR_047563.1:n.1748G>A
NR_047564.1:n.1748G>A
XM_011509365.1:c.1539G>A	XP_011507667.1:p.Arg513=
XM_011509366.1:c.1539G>A	XP_011507668.1:p.Arg513=
XM_011509367.1:c.1539G>A	XP_011507669.1:p.Arg513=
XM_011509368.1:c.957G>A	XP_011507670.1:p.Arg319=
XM_011509369.1:c.-19G>A	XP_011507671.1:n.-19G>A
XM_011509365.2:c.1539G>A	XP_011507667.1:p.Arg513=
XM_011509369.2:c.-19G>A	XP_011507671.1:n.-19G>A
XM_017000851.1:c.696G>A	XP_016856340.1:p.Arg232=
XM_017000852.1:c.1539G>A	XP_016856341.1:p.Arg513=
NM_201253.3:c.1539G>A MANE Select	NP_957705.1:p.Arg513=
NM_001193640.2:c.1203G>A	NP_001180569.1:p.Arg401=
NM_001257965.2:c.1332G>A	NP_001244894.1:p.Arg444=
NR_047563.2:n.1700G>A
NR_047564.2:n.1700G>A
NM_001257966.2:c.1539G>A	NP_001244895.1:p.Arg513=