Canonical Allele Identifier: CA1312136

Gene: CRB1

Linked Data

• ClinVar Variation Id: 750591
• ClinVar RCV Id: RCV000927573 ; RCV001271899
• dbSNP Id: rs139040133
• ExAC: 1:197396993 A / T
• gnomAD v2: 1-197396993-A-T
• gnomAD v3: 1-197427863-A-T
• gnomAD v4: 1-197427863-A-T
• MyVariant Identifiers: chr1:g.197396993A>T (hg19) ; chr1:g.197427863A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427863A>T , CM000663.2:g.197427863A>T	GRCh38
NC_000001.10:g.197396993A>T , CM000663.1:g.197396993A>T	GRCh37
NC_000001.9:g.195663616A>T	NCBI36
NG_008483.1:g.164586A>T
NG_008483.2:g.231402A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2538A>T MANE Select	ENSP00000356370.3:p.Gly846=
ENST00000638467.1:c.2538A>T	ENSP00000491102.1:p.Gly846=
ENST00000681519.1:c.1419A>T	ENSP00000505267.1:p.Gly473=
ENST00000367397.1:c.681A>T	ENSP00000356367.1:p.Gly227=
ENST00000367399.6:c.2202A>T	ENSP00000356369.2:p.Gly734=
ENST00000367400.7:c.2538A>T	ENSP00000356370.3:p.Gly846=
ENST00000484075.5:c.2538A>T	ENSP00000433932.1:p.Gly846=
ENST00000535699.5:c.2331A>T	ENSP00000438786.1:p.Gly777=
ENST00000538660.5:c.2128+5907A>T	ENSP00000438091.1:n.2128+5907A>T
NM_001193640.1:c.2202A>T	NP_001180569.1:p.Gly734=
NM_001257965.1:c.2331A>T	NP_001244894.1:p.Gly777=
NM_001257966.1:c.2128+5907A>T	NP_001244895.1:n.2128+5907A>T
NM_201253.2:c.2538A>T	NP_957705.1:p.Gly846=
NR_047563.1:n.2539A>T
NR_047564.1:n.2747A>T
XM_011509365.1:c.2538A>T	XP_011507667.1:p.Gly846=
XM_011509366.1:c.2538A>T	XP_011507668.1:p.Gly846=
XM_011509367.1:c.2538A>T	XP_011507669.1:p.Gly846=
XM_011509368.1:c.1956A>T	XP_011507670.1:p.Gly652=
XM_011509369.1:c.981A>T	XP_011507671.1:p.Gly327=
XM_011509365.2:c.2538A>T	XP_011507667.1:p.Gly846=
XM_011509369.2:c.981A>T	XP_011507671.1:p.Gly327=
XM_017000851.1:c.1695A>T	XP_016856340.1:p.Gly565=
XM_017000852.1:c.2538A>T	XP_016856341.1:p.Gly846=
NM_201253.3:c.2538A>T MANE Select	NP_957705.1:p.Gly846=
NM_001193640.2:c.2202A>T	NP_001180569.1:p.Gly734=
NM_001257965.2:c.2331A>T	NP_001244894.1:p.Gly777=
NR_047563.2:n.2491A>T
NR_047564.2:n.2699A>T
NM_001257966.2:c.2128+5907A>T	NP_001244895.1:n.2128+5907A>T