Canonical Allele Identifier: CA344032309

Gene: CRB1

Linked Data

• COSMIC: COSM358311
• MyVariant Identifiers: chr1:g.197390686G>T (hg19) ; chr1:g.197421556G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421556G>T , CM000663.2:g.197421556G>T	GRCh38
NC_000001.10:g.197390686G>T , CM000663.1:g.197390686G>T	GRCh37
NC_000001.9:g.195657309G>T	NCBI36
NG_008483.1:g.158279G>T
NG_008483.2:g.225095G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1728G>T MANE Select	ENSP00000356370.3:p.Glu576Asp
ENST00000638467.1:c.1728G>T	ENSP00000491102.1:p.Glu576Asp
ENST00000681519.1:c.609G>T	ENSP00000505267.1:p.Glu203Asp
ENST00000367397.1:c.-130G>T	ENSP00000356367.1:n.-130G>T
ENST00000367399.6:c.1392G>T	ENSP00000356369.2:p.Glu464Asp
ENST00000367400.7:c.1728G>T	ENSP00000356370.3:p.Glu576Asp
ENST00000484075.5:c.1728G>T	ENSP00000433932.1:p.Glu576Asp
ENST00000535699.5:c.1521G>T	ENSP00000438786.1:p.Glu507Asp
ENST00000538660.5:c.1728G>T	ENSP00000438091.1:p.Glu576Asp
NM_001193640.1:c.1392G>T	NP_001180569.1:p.Glu464Asp
NM_001257965.1:c.1521G>T	NP_001244894.1:p.Glu507Asp
NM_001257966.1:c.1728G>T	NP_001244895.1:p.Glu576Asp
NM_201253.2:c.1728G>T	NP_957705.1:p.Glu576Asp
NR_047563.1:n.1922+15G>T
NR_047564.1:n.1937G>T
XM_011509365.1:c.1728G>T	XP_011507667.1:p.Glu576Asp
XM_011509366.1:c.1728G>T	XP_011507668.1:p.Glu576Asp
XM_011509367.1:c.1728G>T	XP_011507669.1:p.Glu576Asp
XM_011509368.1:c.1146G>T	XP_011507670.1:p.Glu382Asp
XM_011509369.1:c.171G>T	XP_011507671.1:p.Glu57Asp
XM_011509365.2:c.1728G>T	XP_011507667.1:p.Glu576Asp
XM_011509369.2:c.171G>T	XP_011507671.1:p.Glu57Asp
XM_017000851.1:c.885G>T	XP_016856340.1:p.Glu295Asp
XM_017000852.1:c.1728G>T	XP_016856341.1:p.Glu576Asp
NM_201253.3:c.1728G>T MANE Select	NP_957705.1:p.Glu576Asp
NM_001193640.2:c.1392G>T	NP_001180569.1:p.Glu464Asp
NM_001257965.2:c.1521G>T	NP_001244894.1:p.Glu507Asp
NR_047563.2:n.1874+15G>T
NR_047564.2:n.1889G>T
NM_001257966.2:c.1728G>T	NP_001244895.1:p.Glu576Asp