Canonical Allele Identifier: CA344032835

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2554945
• ClinVar RCV Id: RCV003277821
• gnomAD v4: 1-197421717-T-C
• COSMIC: COSM3385588
• MyVariant Identifiers: chr1:g.197390847T>C (hg19) ; chr1:g.197421717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421717T>C , CM000663.2:g.197421717T>C	GRCh38
NC_000001.10:g.197390847T>C , CM000663.1:g.197390847T>C	GRCh37
NC_000001.9:g.195657470T>C	NCBI36
NG_008483.1:g.158440T>C
NG_008483.2:g.225256T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1889T>C MANE Select	ENSP00000356370.3:p.Phe630Ser
ENST00000638467.1:c.1889T>C	ENSP00000491102.1:p.Phe630Ser
ENST00000681519.1:c.770T>C	ENSP00000505267.1:p.Phe257Ser
ENST00000367397.1:c.32T>C	ENSP00000356367.1:p.Phe11Ser
ENST00000367399.6:c.1553T>C	ENSP00000356369.2:p.Phe518Ser
ENST00000367400.7:c.1889T>C	ENSP00000356370.3:p.Phe630Ser
ENST00000484075.5:c.1889T>C	ENSP00000433932.1:p.Phe630Ser
ENST00000535699.5:c.1682T>C	ENSP00000438786.1:p.Phe561Ser
ENST00000538660.5:c.1889T>C	ENSP00000438091.1:p.Phe630Ser
NM_001193640.1:c.1553T>C	NP_001180569.1:p.Phe518Ser
NM_001257965.1:c.1682T>C	NP_001244894.1:p.Phe561Ser
NM_001257966.1:c.1889T>C	NP_001244895.1:p.Phe630Ser
NM_201253.2:c.1889T>C	NP_957705.1:p.Phe630Ser
NR_047563.1:n.1923-33T>C
NR_047564.1:n.2098T>C
XM_011509365.1:c.1889T>C	XP_011507667.1:p.Phe630Ser
XM_011509366.1:c.1889T>C	XP_011507668.1:p.Phe630Ser
XM_011509367.1:c.1889T>C	XP_011507669.1:p.Phe630Ser
XM_011509368.1:c.1307T>C	XP_011507670.1:p.Phe436Ser
XM_011509369.1:c.332T>C	XP_011507671.1:p.Phe111Ser
XM_011509365.2:c.1889T>C	XP_011507667.1:p.Phe630Ser
XM_011509369.2:c.332T>C	XP_011507671.1:p.Phe111Ser
XM_017000851.1:c.1046T>C	XP_016856340.1:p.Phe349Ser
XM_017000852.1:c.1889T>C	XP_016856341.1:p.Phe630Ser
NM_201253.3:c.1889T>C MANE Select	NP_957705.1:p.Phe630Ser
NM_001193640.2:c.1553T>C	NP_001180569.1:p.Phe518Ser
NM_001257965.2:c.1682T>C	NP_001244894.1:p.Phe561Ser
NR_047563.2:n.1875-33T>C
NR_047564.2:n.2050T>C
NM_001257966.2:c.1889T>C	NP_001244895.1:p.Phe630Ser