Canonical Allele Identifier: CA10608724

Gene: CRB1

Linked Data

• ClinVar Variation Id: 294684
• ClinVar RCV Id: RCV000297577 ; RCV000336148 ; RCV000401747
• dbSNP Id: rs886045786
• MyVariant Identifiers: chr1:g.197403910C>G (hg19) ; chr1:g.197434780C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434780C>G , CM000663.2:g.197434780C>G	GRCh38
NC_000001.10:g.197403910C>G , CM000663.1:g.197403910C>G	GRCh37
NC_000001.9:g.195670533C>G	NCBI36
NG_008483.1:g.171503C>G
NG_008483.2:g.238319C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2917C>G MANE Select	ENSP00000356370.3:p.Leu973Val
ENST00000638467.1:c.2917C>G	ENSP00000491102.1:p.Leu973Val
ENST00000681519.1:c.1798C>G	ENSP00000505267.1:p.Leu600Val
ENST00000367397.1:c.1060C>G	ENSP00000356367.1:p.Leu354Val
ENST00000367399.6:c.2581C>G	ENSP00000356369.2:p.Leu861Val
ENST00000367400.7:c.2917C>G	ENSP00000356370.3:p.Leu973Val
ENST00000484075.5:c.2917C>G	ENSP00000433932.1:p.Leu973Val
ENST00000535699.5:c.2845C>G	ENSP00000438786.1:p.Leu949Val
ENST00000538660.5:c.2129-820C>G	ENSP00000438091.1:n.2129-820C>G
NM_001193640.1:c.2581C>G	NP_001180569.1:p.Leu861Val
NM_001257965.1:c.2845C>G	NP_001244894.1:p.Leu949Val
NM_001257966.1:c.2129-820C>G	NP_001244895.1:n.2129-820C>G
NM_201253.2:c.2917C>G	NP_957705.1:p.Leu973Val
NR_047563.1:n.2918C>G
NR_047564.1:n.3126C>G
XM_011509365.1:c.2917C>G	XP_011507667.1:p.Leu973Val
XM_011509366.1:c.2917C>G	XP_011507668.1:p.Leu973Val
XM_011509367.1:c.2917C>G	XP_011507669.1:p.Leu973Val
XM_011509368.1:c.2335C>G	XP_011507670.1:p.Leu779Val
XM_011509369.1:c.1360C>G	XP_011507671.1:p.Leu454Val
XM_011509365.2:c.2917C>G	XP_011507667.1:p.Leu973Val
XM_011509369.2:c.1360C>G	XP_011507671.1:p.Leu454Val
XM_017000851.1:c.2074C>G	XP_016856340.1:p.Leu692Val
XM_017000852.1:c.3052C>G	XP_016856341.1:p.Leu1018Val
NM_201253.3:c.2917C>G MANE Select	NP_957705.1:p.Leu973Val
NM_001193640.2:c.2581C>G	NP_001180569.1:p.Leu861Val
NM_001257965.2:c.2845C>G	NP_001244894.1:p.Leu949Val
NR_047563.2:n.2870C>G
NR_047564.2:n.3078C>G
NM_001257966.2:c.2129-820C>G	NP_001244895.1:n.2129-820C>G