Canonical Allele Identifier: CA344035430

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446808G>T (hg19) ; chr1:g.197477678G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477678G>T , CM000663.2:g.197477678G>T	GRCh38
NC_000001.10:g.197446808G>T , CM000663.1:g.197446808G>T	GRCh37
NC_000001.9:g.195713431G>T	NCBI36
NG_008483.1:g.214401G>T
NG_008483.2:g.281217G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4020G>T MANE Select	ENSP00000356370.3:p.Leu1340Phe
ENST00000367399.6:c.3684G>T	ENSP00000356369.2:p.Leu1228Phe
ENST00000367400.7:c.4020G>T	ENSP00000356370.3:p.Leu1340Phe
ENST00000448952.1:c.254G>T	ENSP00000395407.1:n.254G>T
ENST00000484075.5:c.*131G>T	ENSP00000433932.1:n.*131G>T
ENST00000535699.5:c.3948G>T	ENSP00000438786.1:p.Leu1316Phe
ENST00000538660.5:c.2412G>T	ENSP00000438091.1:p.Leu804Phe
NM_001193640.1:c.3684G>T	NP_001180569.1:p.Leu1228Phe
NM_001257965.1:c.3948G>T	NP_001244894.1:p.Leu1316Phe
NM_001257966.1:c.2412G>T	NP_001244895.1:p.Leu804Phe
NM_201253.2:c.4020G>T	NP_957705.1:p.Leu1340Phe
NR_047563.1:n.4021G>T
NR_047564.1:n.4471G>T
XM_011509366.1:c.*125G>T	XP_011507668.1:n.*125G>T
XM_011509367.1:c.3893G>T	XP_011507669.1:p.Ter1298Leu
XM_011509368.1:c.3438G>T	XP_011507670.1:p.Leu1146Phe
XM_011509369.1:c.2463G>T	XP_011507671.1:p.Leu821Phe
XM_011509369.2:c.2463G>T	XP_011507671.1:p.Leu821Phe
XM_017000851.1:c.3177G>T	XP_016856340.1:p.Leu1059Phe
XM_017000852.1:c.4155G>T	XP_016856341.1:p.Leu1385Phe
NM_201253.3:c.4020G>T MANE Select	NP_957705.1:p.Leu1340Phe
NM_001193640.2:c.3684G>T	NP_001180569.1:p.Leu1228Phe
NM_001257965.2:c.3948G>T	NP_001244894.1:p.Leu1316Phe
NR_047563.2:n.3973G>T
NR_047564.2:n.4423G>T
NM_001257966.2:c.2412G>T	NP_001244895.1:p.Leu804Phe