Canonical Allele Identifier: CA344044995

Gene: CRB1

Linked Data

• COSMIC: COSM4827769 ; COSM4827770
• MyVariant Identifiers: chr1:g.197404045T>C (hg19) ; chr1:g.197434915T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434915T>C , CM000663.2:g.197434915T>C	GRCh38
NC_000001.10:g.197404045T>C , CM000663.1:g.197404045T>C	GRCh37
NC_000001.9:g.195670668T>C	NCBI36
NG_008483.1:g.171638T>C
NG_008483.2:g.238454T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3052T>C MANE Select	ENSP00000356370.3:p.Phe1018Leu
ENST00000638467.1:c.3052T>C	ENSP00000491102.1:p.Phe1018Leu
ENST00000681519.1:c.1933T>C	ENSP00000505267.1:p.Phe645Leu
ENST00000367397.1:c.1195T>C	ENSP00000356367.1:p.Phe399Leu
ENST00000367399.6:c.2716T>C	ENSP00000356369.2:p.Phe906Leu
ENST00000367400.7:c.3052T>C	ENSP00000356370.3:p.Phe1018Leu
ENST00000484075.5:c.3052T>C	ENSP00000433932.1:p.Phe1018Leu
ENST00000535699.5:c.2980T>C	ENSP00000438786.1:p.Phe994Leu
ENST00000538660.5:c.2129-685T>C	ENSP00000438091.1:n.2129-685T>C
NM_001193640.1:c.2716T>C	NP_001180569.1:p.Phe906Leu
NM_001257965.1:c.2980T>C	NP_001244894.1:p.Phe994Leu
NM_001257966.1:c.2129-685T>C	NP_001244895.1:n.2129-685T>C
NM_201253.2:c.3052T>C	NP_957705.1:p.Phe1018Leu
NR_047563.1:n.3053T>C
NR_047564.1:n.3261T>C
XM_011509365.1:c.3052T>C	XP_011507667.1:p.Phe1018Leu
XM_011509366.1:c.3052T>C	XP_011507668.1:p.Phe1018Leu
XM_011509367.1:c.3052T>C	XP_011507669.1:p.Phe1018Leu
XM_011509368.1:c.2470T>C	XP_011507670.1:p.Phe824Leu
XM_011509369.1:c.1495T>C	XP_011507671.1:p.Phe499Leu
XM_011509365.2:c.3052T>C	XP_011507667.1:p.Phe1018Leu
XM_011509369.2:c.1495T>C	XP_011507671.1:p.Phe499Leu
XM_017000851.1:c.2209T>C	XP_016856340.1:p.Phe737Leu
XM_017000852.1:c.3187T>C	XP_016856341.1:p.Phe1063Leu
NM_201253.3:c.3052T>C MANE Select	NP_957705.1:p.Phe1018Leu
NM_001193640.2:c.2716T>C	NP_001180569.1:p.Phe906Leu
NM_001257965.2:c.2980T>C	NP_001244894.1:p.Phe994Leu
NR_047563.2:n.3005T>C
NR_047564.2:n.3213T>C
NM_001257966.2:c.2129-685T>C	NP_001244895.1:n.2129-685T>C