Canonical Allele Identifier: CA344035390

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446798C>A (hg19) ; chr1:g.197477668C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477668C>A , CM000663.2:g.197477668C>A	GRCh38
NC_000001.10:g.197446798C>A , CM000663.1:g.197446798C>A	GRCh37
NC_000001.9:g.195713421C>A	NCBI36
NG_008483.1:g.214391C>A
NG_008483.2:g.281207C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4010C>A MANE Select	ENSP00000356370.3:p.Ala1337Glu
ENST00000367399.6:c.3674C>A	ENSP00000356369.2:p.Ala1225Glu
ENST00000367400.7:c.4010C>A	ENSP00000356370.3:p.Ala1337Glu
ENST00000448952.1:c.244C>A	ENSP00000395407.1:n.244C>A
ENST00000484075.5:c.*121C>A	ENSP00000433932.1:n.*121C>A
ENST00000535699.5:c.3938C>A	ENSP00000438786.1:p.Ala1313Glu
ENST00000538660.5:c.2402C>A	ENSP00000438091.1:p.Ala801Glu
NM_001193640.1:c.3674C>A	NP_001180569.1:p.Ala1225Glu
NM_001257965.1:c.3938C>A	NP_001244894.1:p.Ala1313Glu
NM_001257966.1:c.2402C>A	NP_001244895.1:p.Ala801Glu
NM_201253.2:c.4010C>A	NP_957705.1:p.Ala1337Glu
NR_047563.1:n.4011C>A
NR_047564.1:n.4461C>A
XM_011509366.1:c.*115C>A	XP_011507668.1:n.*115C>A
XM_011509367.1:c.3883C>A	XP_011507669.1:p.Gln1295Lys
XM_011509368.1:c.3428C>A	XP_011507670.1:p.Ala1143Glu
XM_011509369.1:c.2453C>A	XP_011507671.1:p.Ala818Glu
XM_011509369.2:c.2453C>A	XP_011507671.1:p.Ala818Glu
XM_017000851.1:c.3167C>A	XP_016856340.1:p.Ala1056Glu
XM_017000852.1:c.4145C>A	XP_016856341.1:p.Ala1382Glu
NM_201253.3:c.4010C>A MANE Select	NP_957705.1:p.Ala1337Glu
NM_001193640.2:c.3674C>A	NP_001180569.1:p.Ala1225Glu
NM_001257965.2:c.3938C>A	NP_001244894.1:p.Ala1313Glu
NR_047563.2:n.3963C>A
NR_047564.2:n.4413C>A
NM_001257966.2:c.2402C>A	NP_001244895.1:p.Ala801Glu