Canonical Allele Identifier: CA344030332

Gene: CRB1

Linked Data

• ClinVar Variation Id: 801595
• ClinVar RCV Id: RCV000986487 ; RCV001759677 ; RCV003454998 ; RCV003454999 ; RCV003455000
• dbSNP Id: rs1571522690
• gnomAD v4: 1-197421141-G-A
• MyVariant Identifiers: chr1:g.197390271G>A (hg19) ; chr1:g.197421141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421141G>A , CM000663.2:g.197421141G>A	GRCh38
NC_000001.10:g.197390271G>A , CM000663.1:g.197390271G>A	GRCh37
NC_000001.9:g.195656894G>A	NCBI36
NG_008483.1:g.157864G>A
NG_008483.2:g.224680G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1313G>A MANE Select	ENSP00000356370.3:p.Cys438Tyr
ENST00000638467.1:c.1313G>A	ENSP00000491102.1:p.Cys438Tyr
ENST00000681519.1:c.194G>A	ENSP00000505267.1:p.Cys65Tyr
ENST00000367397.1:c.-545G>A	ENSP00000356367.1:n.-545G>A
ENST00000367399.6:c.977G>A	ENSP00000356369.2:p.Cys326Tyr
ENST00000367400.7:c.1313G>A	ENSP00000356370.3:p.Cys438Tyr
ENST00000476483.1:n.273G>A
ENST00000484075.5:c.1313G>A	ENSP00000433932.1:p.Cys438Tyr
ENST00000535699.5:c.1106G>A	ENSP00000438786.1:p.Cys369Tyr
ENST00000538660.5:c.1313G>A	ENSP00000438091.1:p.Cys438Tyr
NM_001193640.1:c.977G>A	NP_001180569.1:p.Cys326Tyr
NM_001257965.1:c.1106G>A	NP_001244894.1:p.Cys369Tyr
NM_001257966.1:c.1313G>A	NP_001244895.1:p.Cys438Tyr
NM_201253.2:c.1313G>A	NP_957705.1:p.Cys438Tyr
NR_047563.1:n.1522G>A
NR_047564.1:n.1522G>A
XM_011509365.1:c.1313G>A	XP_011507667.1:p.Cys438Tyr
XM_011509366.1:c.1313G>A	XP_011507668.1:p.Cys438Tyr
XM_011509367.1:c.1313G>A	XP_011507669.1:p.Cys438Tyr
XM_011509368.1:c.731G>A	XP_011507670.1:p.Cys244Tyr
XM_011509369.1:c.-245G>A	XP_011507671.1:n.-245G>A
XM_011509365.2:c.1313G>A	XP_011507667.1:p.Cys438Tyr
XM_011509369.2:c.-245G>A	XP_011507671.1:n.-245G>A
XM_017000851.1:c.470G>A	XP_016856340.1:p.Cys157Tyr
XM_017000852.1:c.1313G>A	XP_016856341.1:p.Cys438Tyr
NM_201253.3:c.1313G>A MANE Select	NP_957705.1:p.Cys438Tyr
NM_001193640.2:c.977G>A	NP_001180569.1:p.Cys326Tyr
NM_001257965.2:c.1106G>A	NP_001244894.1:p.Cys369Tyr
NR_047563.2:n.1474G>A
NR_047564.2:n.1474G>A
NM_001257966.2:c.1313G>A	NP_001244895.1:p.Cys438Tyr