Canonical Allele Identifier: CA344047024

Gene: CRB1

Linked Data

• COSMIC: COSM1668332
• MyVariant Identifiers: chr1:g.197404294G>T (hg19) ; chr1:g.197435164G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435164G>T , CM000663.2:g.197435164G>T	GRCh38
NC_000001.10:g.197404294G>T , CM000663.1:g.197404294G>T	GRCh37
NC_000001.9:g.195670917G>T	NCBI36
NG_008483.1:g.171887G>T
NG_008483.2:g.238703G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3301G>T MANE Select	ENSP00000356370.3:p.Glu1101Ter
ENST00000638467.1:c.3301G>T	ENSP00000491102.1:p.Glu1101Ter
ENST00000681519.1:c.2182G>T	ENSP00000505267.1:p.Glu728Ter
ENST00000367397.1:c.1444G>T	ENSP00000356367.1:p.Glu482Ter
ENST00000367399.6:c.2965G>T	ENSP00000356369.2:p.Glu989Ter
ENST00000367400.7:c.3301G>T	ENSP00000356370.3:p.Glu1101Ter
ENST00000484075.5:c.3301G>T	ENSP00000433932.1:p.Glu1101Ter
ENST00000535699.5:c.3229G>T	ENSP00000438786.1:p.Glu1077Ter
ENST00000538660.5:c.2129-436G>T	ENSP00000438091.1:n.2129-436G>T
NM_001193640.1:c.2965G>T	NP_001180569.1:p.Glu989Ter
NM_001257965.1:c.3229G>T	NP_001244894.1:p.Glu1077Ter
NM_001257966.1:c.2129-436G>T	NP_001244895.1:n.2129-436G>T
NM_201253.2:c.3301G>T	NP_957705.1:p.Glu1101Ter
NR_047563.1:n.3302G>T
NR_047564.1:n.3510G>T
XM_011509365.1:c.3301G>T	XP_011507667.1:p.Glu1101Ter
XM_011509366.1:c.3301G>T	XP_011507668.1:p.Glu1101Ter
XM_011509367.1:c.3301G>T	XP_011507669.1:p.Glu1101Ter
XM_011509368.1:c.2719G>T	XP_011507670.1:p.Glu907Ter
XM_011509369.1:c.1744G>T	XP_011507671.1:p.Glu582Ter
XM_011509365.2:c.3301G>T	XP_011507667.1:p.Glu1101Ter
XM_011509369.2:c.1744G>T	XP_011507671.1:p.Glu582Ter
XM_017000851.1:c.2458G>T	XP_016856340.1:p.Glu820Ter
XM_017000852.1:c.3436G>T	XP_016856341.1:p.Glu1146Ter
NM_201253.3:c.3301G>T MANE Select	NP_957705.1:p.Glu1101Ter
NM_001193640.2:c.2965G>T	NP_001180569.1:p.Glu989Ter
NM_001257965.2:c.3229G>T	NP_001244894.1:p.Glu1077Ter
NR_047563.2:n.3254G>T
NR_047564.2:n.3462G>T
NM_001257966.2:c.2129-436G>T	NP_001244895.1:n.2129-436G>T