Canonical Allele Identifier: CA1312009

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1406197
• ClinVar RCV Id: RCV001915709
• dbSNP Id: rs780399679
• ExAC: 1:197390940 G / T
• gnomAD v2: 1-197390940-G-T
• gnomAD v4: 1-197421810-G-T
• MyVariant Identifiers: chr1:g.197390940G>T (hg19) ; chr1:g.197421810G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421810G>T , CM000663.2:g.197421810G>T	GRCh38
NC_000001.10:g.197390940G>T , CM000663.1:g.197390940G>T	GRCh37
NC_000001.9:g.195657563G>T	NCBI36
NG_008483.1:g.158533G>T
NG_008483.2:g.225349G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1982G>T MANE Select	ENSP00000356370.3:p.Gly661Val
ENST00000638467.1:c.1982G>T	ENSP00000491102.1:p.Gly661Val
ENST00000681519.1:c.863G>T	ENSP00000505267.1:p.Gly288Val
ENST00000367397.1:c.125G>T	ENSP00000356367.1:p.Gly42Val
ENST00000367399.6:c.1646G>T	ENSP00000356369.2:p.Gly549Val
ENST00000367400.7:c.1982G>T	ENSP00000356370.3:p.Gly661Val
ENST00000484075.5:c.1982G>T	ENSP00000433932.1:p.Gly661Val
ENST00000535699.5:c.1775G>T	ENSP00000438786.1:p.Gly592Val
ENST00000538660.5:c.1982G>T	ENSP00000438091.1:p.Gly661Val
NM_001193640.1:c.1646G>T	NP_001180569.1:p.Gly549Val
NM_001257965.1:c.1775G>T	NP_001244894.1:p.Gly592Val
NM_001257966.1:c.1982G>T	NP_001244895.1:p.Gly661Val
NM_201253.2:c.1982G>T	NP_957705.1:p.Gly661Val
NR_047563.1:n.1983G>T
NR_047564.1:n.2191G>T
XM_011509365.1:c.1982G>T	XP_011507667.1:p.Gly661Val
XM_011509366.1:c.1982G>T	XP_011507668.1:p.Gly661Val
XM_011509367.1:c.1982G>T	XP_011507669.1:p.Gly661Val
XM_011509368.1:c.1400G>T	XP_011507670.1:p.Gly467Val
XM_011509369.1:c.425G>T	XP_011507671.1:p.Gly142Val
XM_011509365.2:c.1982G>T	XP_011507667.1:p.Gly661Val
XM_011509369.2:c.425G>T	XP_011507671.1:p.Gly142Val
XM_017000851.1:c.1139G>T	XP_016856340.1:p.Gly380Val
XM_017000852.1:c.1982G>T	XP_016856341.1:p.Gly661Val
NM_201253.3:c.1982G>T MANE Select	NP_957705.1:p.Gly661Val
NM_001193640.2:c.1646G>T	NP_001180569.1:p.Gly549Val
NM_001257965.2:c.1775G>T	NP_001244894.1:p.Gly592Val
NR_047563.2:n.1935G>T
NR_047564.2:n.2143G>T
NM_001257966.2:c.1982G>T	NP_001244895.1:p.Gly661Val