Canonical Allele Identifier: CA422808244

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1538703
• ClinVar RCV Id: RCV002162124
• dbSNP Id: rs1208469570
• gnomAD v3: 1-197421340-G-A
• gnomAD v4: 1-197421340-G-A
• MyVariant Identifiers: chr1:g.197390470G>A (hg19) ; chr1:g.197421340G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421340G>A , CM000663.2:g.197421340G>A	GRCh38
NC_000001.10:g.197390470G>A , CM000663.1:g.197390470G>A	GRCh37
NC_000001.9:g.195657093G>A	NCBI36
NG_008483.1:g.158063G>A
NG_008483.2:g.224879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1512G>A MANE Select	ENSP00000356370.3:p.Lys504=
ENST00000638467.1:c.1512G>A	ENSP00000491102.1:p.Lys504=
ENST00000681519.1:c.393G>A	ENSP00000505267.1:p.Lys131=
ENST00000367397.1:c.-346G>A	ENSP00000356367.1:n.-346G>A
ENST00000367399.6:c.1176G>A	ENSP00000356369.2:p.Lys392=
ENST00000367400.7:c.1512G>A	ENSP00000356370.3:p.Lys504=
ENST00000476483.1:n.472G>A
ENST00000484075.5:c.1512G>A	ENSP00000433932.1:p.Lys504=
ENST00000535699.5:c.1305G>A	ENSP00000438786.1:p.Lys435=
ENST00000538660.5:c.1512G>A	ENSP00000438091.1:p.Lys504=
NM_001193640.1:c.1176G>A	NP_001180569.1:p.Lys392=
NM_001257965.1:c.1305G>A	NP_001244894.1:p.Lys435=
NM_001257966.1:c.1512G>A	NP_001244895.1:p.Lys504=
NM_201253.2:c.1512G>A	NP_957705.1:p.Lys504=
NR_047563.1:n.1721G>A
NR_047564.1:n.1721G>A
XM_011509365.1:c.1512G>A	XP_011507667.1:p.Lys504=
XM_011509366.1:c.1512G>A	XP_011507668.1:p.Lys504=
XM_011509367.1:c.1512G>A	XP_011507669.1:p.Lys504=
XM_011509368.1:c.930G>A	XP_011507670.1:p.Lys310=
XM_011509369.1:c.-46G>A	XP_011507671.1:n.-46G>A
XM_011509365.2:c.1512G>A	XP_011507667.1:p.Lys504=
XM_011509369.2:c.-46G>A	XP_011507671.1:n.-46G>A
XM_017000851.1:c.669G>A	XP_016856340.1:p.Lys223=
XM_017000852.1:c.1512G>A	XP_016856341.1:p.Lys504=
NM_201253.3:c.1512G>A MANE Select	NP_957705.1:p.Lys504=
NM_001193640.2:c.1176G>A	NP_001180569.1:p.Lys392=
NM_001257965.2:c.1305G>A	NP_001244894.1:p.Lys435=
NR_047563.2:n.1673G>A
NR_047564.2:n.1673G>A
NM_001257966.2:c.1512G>A	NP_001244895.1:p.Lys504=