Canonical Allele Identifier: CA422809273

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1560090
• ClinVar RCV Id: RCV002195405
• dbSNP Id: rs1664663329
• gnomAD v3: 1-197427695-T-C
• gnomAD v4: 1-197427695-T-C
• MyVariant Identifiers: chr1:g.197396825T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427695T>C , CM000663.2:g.197427695T>C	GRCh38
NC_000001.10:g.197396825T>C , CM000663.1:g.197396825T>C	GRCh37
NC_000001.9:g.195663448T>C	NCBI36
NG_008483.1:g.164418T>C
NG_008483.2:g.231234T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2370T>C MANE Select	ENSP00000356370.3:p.Asp790=
ENST00000638467.1:c.2370T>C	ENSP00000491102.1:p.Asp790=
ENST00000681519.1:c.1251T>C	ENSP00000505267.1:p.Asp417=
ENST00000367397.1:c.513T>C	ENSP00000356367.1:p.Asp171=
ENST00000367399.6:c.2034T>C	ENSP00000356369.2:p.Asp678=
ENST00000367400.7:c.2370T>C	ENSP00000356370.3:p.Asp790=
ENST00000480086.2:n.271T>C
ENST00000484075.5:c.2370T>C	ENSP00000433932.1:p.Asp790=
ENST00000535699.5:c.2163T>C	ENSP00000438786.1:p.Asp721=
ENST00000538660.5:c.2128+5739T>C	ENSP00000438091.1:n.2128+5739T>C
NM_001193640.1:c.2034T>C	NP_001180569.1:p.Asp678=
NM_001257965.1:c.2163T>C	NP_001244894.1:p.Asp721=
NM_001257966.1:c.2128+5739T>C	NP_001244895.1:n.2128+5739T>C
NM_201253.2:c.2370T>C	NP_957705.1:p.Asp790=
NR_047563.1:n.2371T>C
NR_047564.1:n.2579T>C
XM_011509365.1:c.2370T>C	XP_011507667.1:p.Asp790=
XM_011509366.1:c.2370T>C	XP_011507668.1:p.Asp790=
XM_011509367.1:c.2370T>C	XP_011507669.1:p.Asp790=
XM_011509368.1:c.1788T>C	XP_011507670.1:p.Asp596=
XM_011509369.1:c.813T>C	XP_011507671.1:p.Asp271=
XM_011509365.2:c.2370T>C	XP_011507667.1:p.Asp790=
XM_011509369.2:c.813T>C	XP_011507671.1:p.Asp271=
XM_017000851.1:c.1527T>C	XP_016856340.1:p.Asp509=
XM_017000852.1:c.2370T>C	XP_016856341.1:p.Asp790=
NM_201253.3:c.2370T>C MANE Select	NP_957705.1:p.Asp790=
NM_001193640.2:c.2034T>C	NP_001180569.1:p.Asp678=
NM_001257965.2:c.2163T>C	NP_001244894.1:p.Asp721=
NR_047563.2:n.2323T>C
NR_047564.2:n.2531T>C
NM_001257966.2:c.2128+5739T>C	NP_001244895.1:n.2128+5739T>C