Canonical Allele Identifier: CA1311996

Gene: CRB1

Linked Data

• ClinVar Variation Id: 960927
• ClinVar RCV Id: RCV001234537
• dbSNP Id: rs749411741
• ExAC: 1:197390841 T / C
• gnomAD v2: 1-197390841-T-C
• gnomAD v4: 1-197421711-T-C
• MyVariant Identifiers: chr1:g.197390841T>C (hg19) ; chr1:g.197421711T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421711T>C , CM000663.2:g.197421711T>C	GRCh38
NC_000001.10:g.197390841T>C , CM000663.1:g.197390841T>C	GRCh37
NC_000001.9:g.195657464T>C	NCBI36
NG_008483.1:g.158434T>C
NG_008483.2:g.225250T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1883T>C MANE Select	ENSP00000356370.3:p.Leu628Pro
ENST00000638467.1:c.1883T>C	ENSP00000491102.1:p.Leu628Pro
ENST00000681519.1:c.764T>C	ENSP00000505267.1:p.Leu255Pro
ENST00000367397.1:c.26T>C	ENSP00000356367.1:p.Leu9Pro
ENST00000367399.6:c.1547T>C	ENSP00000356369.2:p.Leu516Pro
ENST00000367400.7:c.1883T>C	ENSP00000356370.3:p.Leu628Pro
ENST00000484075.5:c.1883T>C	ENSP00000433932.1:p.Leu628Pro
ENST00000535699.5:c.1676T>C	ENSP00000438786.1:p.Leu559Pro
ENST00000538660.5:c.1883T>C	ENSP00000438091.1:p.Leu628Pro
NM_001193640.1:c.1547T>C	NP_001180569.1:p.Leu516Pro
NM_001257965.1:c.1676T>C	NP_001244894.1:p.Leu559Pro
NM_001257966.1:c.1883T>C	NP_001244895.1:p.Leu628Pro
NM_201253.2:c.1883T>C	NP_957705.1:p.Leu628Pro
NR_047563.1:n.1923-39T>C
NR_047564.1:n.2092T>C
XM_011509365.1:c.1883T>C	XP_011507667.1:p.Leu628Pro
XM_011509366.1:c.1883T>C	XP_011507668.1:p.Leu628Pro
XM_011509367.1:c.1883T>C	XP_011507669.1:p.Leu628Pro
XM_011509368.1:c.1301T>C	XP_011507670.1:p.Leu434Pro
XM_011509369.1:c.326T>C	XP_011507671.1:p.Leu109Pro
XM_011509365.2:c.1883T>C	XP_011507667.1:p.Leu628Pro
XM_011509369.2:c.326T>C	XP_011507671.1:p.Leu109Pro
XM_017000851.1:c.1040T>C	XP_016856340.1:p.Leu347Pro
XM_017000852.1:c.1883T>C	XP_016856341.1:p.Leu628Pro
NM_201253.3:c.1883T>C MANE Select	NP_957705.1:p.Leu628Pro
NM_001193640.2:c.1547T>C	NP_001180569.1:p.Leu516Pro
NM_001257965.2:c.1676T>C	NP_001244894.1:p.Leu559Pro
NR_047563.2:n.1875-39T>C
NR_047564.2:n.2044T>C
NM_001257966.2:c.1883T>C	NP_001244895.1:p.Leu628Pro