Canonical Allele Identifier: CA344035907

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446962G>C (hg19) ; chr1:g.197477832G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477832G>C , CM000663.2:g.197477832G>C	GRCh38
NC_000001.10:g.197446962G>C , CM000663.1:g.197446962G>C	GRCh37
NC_000001.9:g.195713585G>C	NCBI36
NG_008483.1:g.214555G>C
NG_008483.2:g.281371G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4174G>C MANE Select	ENSP00000356370.3:p.Glu1392Gln
ENST00000367399.6:c.3838G>C	ENSP00000356369.2:p.Glu1280Gln
ENST00000367400.7:c.4174G>C	ENSP00000356370.3:p.Glu1392Gln
ENST00000448952.1:c.408G>C	ENSP00000395407.1:n.408G>C
ENST00000484075.5:c.*285G>C	ENSP00000433932.1:n.*285G>C
ENST00000535699.5:c.4102G>C	ENSP00000438786.1:p.Glu1368Gln
ENST00000538660.5:c.2566G>C	ENSP00000438091.1:p.Glu856Gln
NM_001193640.1:c.3838G>C	NP_001180569.1:p.Glu1280Gln
NM_001257965.1:c.4102G>C	NP_001244894.1:p.Glu1368Gln
NM_001257966.1:c.2566G>C	NP_001244895.1:p.Glu856Gln
NM_201253.2:c.4174G>C	NP_957705.1:p.Glu1392Gln
NR_047563.1:n.4175G>C
NR_047564.1:n.4625G>C
XM_011509366.1:c.*279G>C	XP_011507668.1:n.*279G>C
XM_011509367.1:c.*153G>C	XP_011507669.1:n.*153G>C
XM_011509368.1:c.3592G>C	XP_011507670.1:p.Glu1198Gln
XM_011509369.1:c.2617G>C	XP_011507671.1:p.Glu873Gln
XM_011509369.2:c.2617G>C	XP_011507671.1:p.Glu873Gln
XM_017000851.1:c.3331G>C	XP_016856340.1:p.Glu1111Gln
XM_017000852.1:c.4309G>C	XP_016856341.1:p.Glu1437Gln
NM_201253.3:c.4174G>C MANE Select	NP_957705.1:p.Glu1392Gln
NM_001193640.2:c.3838G>C	NP_001180569.1:p.Glu1280Gln
NM_001257965.2:c.4102G>C	NP_001244894.1:p.Glu1368Gln
NR_047563.2:n.4127G>C
NR_047564.2:n.4577G>C
NM_001257966.2:c.2566G>C	NP_001244895.1:p.Glu856Gln