Canonical Allele Identifier: CA344038196

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197397006T>G (hg19) ; chr1:g.197427876T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427876T>G , CM000663.2:g.197427876T>G	GRCh38
NC_000001.10:g.197397006T>G , CM000663.1:g.197397006T>G	GRCh37
NC_000001.9:g.195663629T>G	NCBI36
NG_008483.1:g.164599T>G
NG_008483.2:g.231415T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2551T>G MANE Select	ENSP00000356370.3:p.Cys851Gly
ENST00000638467.1:c.2551T>G	ENSP00000491102.1:p.Cys851Gly
ENST00000681519.1:c.1432T>G	ENSP00000505267.1:p.Cys478Gly
ENST00000367397.1:c.694T>G	ENSP00000356367.1:p.Cys232Gly
ENST00000367399.6:c.2215T>G	ENSP00000356369.2:p.Cys739Gly
ENST00000367400.7:c.2551T>G	ENSP00000356370.3:p.Cys851Gly
ENST00000484075.5:c.2551T>G	ENSP00000433932.1:p.Cys851Gly
ENST00000535699.5:c.2344T>G	ENSP00000438786.1:p.Cys782Gly
ENST00000538660.5:c.2128+5920T>G	ENSP00000438091.1:n.2128+5920T>G
NM_001193640.1:c.2215T>G	NP_001180569.1:p.Cys739Gly
NM_001257965.1:c.2344T>G	NP_001244894.1:p.Cys782Gly
NM_001257966.1:c.2128+5920T>G	NP_001244895.1:n.2128+5920T>G
NM_201253.2:c.2551T>G	NP_957705.1:p.Cys851Gly
NR_047563.1:n.2552T>G
NR_047564.1:n.2760T>G
XM_011509365.1:c.2551T>G	XP_011507667.1:p.Cys851Gly
XM_011509366.1:c.2551T>G	XP_011507668.1:p.Cys851Gly
XM_011509367.1:c.2551T>G	XP_011507669.1:p.Cys851Gly
XM_011509368.1:c.1969T>G	XP_011507670.1:p.Cys657Gly
XM_011509369.1:c.994T>G	XP_011507671.1:p.Cys332Gly
XM_011509365.2:c.2551T>G	XP_011507667.1:p.Cys851Gly
XM_011509369.2:c.994T>G	XP_011507671.1:p.Cys332Gly
XM_017000851.1:c.1708T>G	XP_016856340.1:p.Cys570Gly
XM_017000852.1:c.2551T>G	XP_016856341.1:p.Cys851Gly
NM_201253.3:c.2551T>G MANE Select	NP_957705.1:p.Cys851Gly
NM_001193640.2:c.2215T>G	NP_001180569.1:p.Cys739Gly
NM_001257965.2:c.2344T>G	NP_001244894.1:p.Cys782Gly
NR_047563.2:n.2504T>G
NR_047564.2:n.2712T>G
NM_001257966.2:c.2128+5920T>G	NP_001244895.1:n.2128+5920T>G