Canonical Allele Identifier: CA344044337

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197403984A>C (hg19) ; chr1:g.197434854A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434854A>C , CM000663.2:g.197434854A>C	GRCh38
NC_000001.10:g.197403984A>C , CM000663.1:g.197403984A>C	GRCh37
NC_000001.9:g.195670607A>C	NCBI36
NG_008483.1:g.171577A>C
NG_008483.2:g.238393A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2991A>C MANE Select	ENSP00000356370.3:p.Glu997Asp
ENST00000638467.1:c.2991A>C	ENSP00000491102.1:p.Glu997Asp
ENST00000681519.1:c.1872A>C	ENSP00000505267.1:p.Glu624Asp
ENST00000367397.1:c.1134A>C	ENSP00000356367.1:p.Glu378Asp
ENST00000367399.6:c.2655A>C	ENSP00000356369.2:p.Glu885Asp
ENST00000367400.7:c.2991A>C	ENSP00000356370.3:p.Glu997Asp
ENST00000484075.5:c.2991A>C	ENSP00000433932.1:p.Glu997Asp
ENST00000535699.5:c.2919A>C	ENSP00000438786.1:p.Glu973Asp
ENST00000538660.5:c.2129-746A>C	ENSP00000438091.1:n.2129-746A>C
NM_001193640.1:c.2655A>C	NP_001180569.1:p.Glu885Asp
NM_001257965.1:c.2919A>C	NP_001244894.1:p.Glu973Asp
NM_001257966.1:c.2129-746A>C	NP_001244895.1:n.2129-746A>C
NM_201253.2:c.2991A>C	NP_957705.1:p.Glu997Asp
NR_047563.1:n.2992A>C
NR_047564.1:n.3200A>C
XM_011509365.1:c.2991A>C	XP_011507667.1:p.Glu997Asp
XM_011509366.1:c.2991A>C	XP_011507668.1:p.Glu997Asp
XM_011509367.1:c.2991A>C	XP_011507669.1:p.Glu997Asp
XM_011509368.1:c.2409A>C	XP_011507670.1:p.Glu803Asp
XM_011509369.1:c.1434A>C	XP_011507671.1:p.Glu478Asp
XM_011509365.2:c.2991A>C	XP_011507667.1:p.Glu997Asp
XM_011509369.2:c.1434A>C	XP_011507671.1:p.Glu478Asp
XM_017000851.1:c.2148A>C	XP_016856340.1:p.Glu716Asp
XM_017000852.1:c.3126A>C	XP_016856341.1:p.Glu1042Asp
NM_201253.3:c.2991A>C MANE Select	NP_957705.1:p.Glu997Asp
NM_001193640.2:c.2655A>C	NP_001180569.1:p.Glu885Asp
NM_001257965.2:c.2919A>C	NP_001244894.1:p.Glu973Asp
NR_047563.2:n.2944A>C
NR_047564.2:n.3152A>C
NM_001257966.2:c.2129-746A>C	NP_001244895.1:n.2129-746A>C