Canonical Allele Identifier: CA344035496

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446840T>C (hg19) ; chr1:g.197477710T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477710T>C , CM000663.2:g.197477710T>C	GRCh38
NC_000001.10:g.197446840T>C , CM000663.1:g.197446840T>C	GRCh37
NC_000001.9:g.195713463T>C	NCBI36
NG_008483.1:g.214433T>C
NG_008483.2:g.281249T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4052T>C MANE Select	ENSP00000356370.3:p.Val1351Ala
ENST00000367399.6:c.3716T>C	ENSP00000356369.2:p.Val1239Ala
ENST00000367400.7:c.4052T>C	ENSP00000356370.3:p.Val1351Ala
ENST00000448952.1:c.286T>C	ENSP00000395407.1:n.286T>C
ENST00000484075.5:c.*163T>C	ENSP00000433932.1:n.*163T>C
ENST00000535699.5:c.3980T>C	ENSP00000438786.1:p.Val1327Ala
ENST00000538660.5:c.2444T>C	ENSP00000438091.1:p.Val815Ala
NM_001193640.1:c.3716T>C	NP_001180569.1:p.Val1239Ala
NM_001257965.1:c.3980T>C	NP_001244894.1:p.Val1327Ala
NM_001257966.1:c.2444T>C	NP_001244895.1:p.Val815Ala
NM_201253.2:c.4052T>C	NP_957705.1:p.Val1351Ala
NR_047563.1:n.4053T>C
NR_047564.1:n.4503T>C
XM_011509366.1:c.*157T>C	XP_011507668.1:n.*157T>C
XM_011509367.1:c.*31T>C	XP_011507669.1:n.*31T>C
XM_011509368.1:c.3470T>C	XP_011507670.1:p.Val1157Ala
XM_011509369.1:c.2495T>C	XP_011507671.1:p.Val832Ala
XM_011509369.2:c.2495T>C	XP_011507671.1:p.Val832Ala
XM_017000851.1:c.3209T>C	XP_016856340.1:p.Val1070Ala
XM_017000852.1:c.4187T>C	XP_016856341.1:p.Val1396Ala
NM_201253.3:c.4052T>C MANE Select	NP_957705.1:p.Val1351Ala
NM_001193640.2:c.3716T>C	NP_001180569.1:p.Val1239Ala
NM_001257965.2:c.3980T>C	NP_001244894.1:p.Val1327Ala
NR_047563.2:n.4005T>C
NR_047564.2:n.4455T>C
NM_001257966.2:c.2444T>C	NP_001244895.1:p.Val815Ala