Canonical Allele Identifier: CA344032379

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1346996
• ClinVar RCV Id: RCV002050250
• dbSNP Id: rs761775378
• MyVariant Identifiers: chr1:g.197390696C>T (hg19) ; chr1:g.197421566C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421566C>T , CM000663.2:g.197421566C>T	GRCh38
NC_000001.10:g.197390696C>T , CM000663.1:g.197390696C>T	GRCh37
NC_000001.9:g.195657319C>T	NCBI36
NG_008483.1:g.158289C>T
NG_008483.2:g.225105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1738C>T MANE Select	ENSP00000356370.3:p.Leu580Phe
ENST00000638467.1:c.1738C>T	ENSP00000491102.1:p.Leu580Phe
ENST00000681519.1:c.619C>T	ENSP00000505267.1:p.Leu207Phe
ENST00000367397.1:c.-120C>T	ENSP00000356367.1:n.-120C>T
ENST00000367399.6:c.1402C>T	ENSP00000356369.2:p.Leu468Phe
ENST00000367400.7:c.1738C>T	ENSP00000356370.3:p.Leu580Phe
ENST00000484075.5:c.1738C>T	ENSP00000433932.1:p.Leu580Phe
ENST00000535699.5:c.1531C>T	ENSP00000438786.1:p.Leu511Phe
ENST00000538660.5:c.1738C>T	ENSP00000438091.1:p.Leu580Phe
NM_001193640.1:c.1402C>T	NP_001180569.1:p.Leu468Phe
NM_001257965.1:c.1531C>T	NP_001244894.1:p.Leu511Phe
NM_001257966.1:c.1738C>T	NP_001244895.1:p.Leu580Phe
NM_201253.2:c.1738C>T	NP_957705.1:p.Leu580Phe
NR_047563.1:n.1922+25C>T
NR_047564.1:n.1947C>T
XM_011509365.1:c.1738C>T	XP_011507667.1:p.Leu580Phe
XM_011509366.1:c.1738C>T	XP_011507668.1:p.Leu580Phe
XM_011509367.1:c.1738C>T	XP_011507669.1:p.Leu580Phe
XM_011509368.1:c.1156C>T	XP_011507670.1:p.Leu386Phe
XM_011509369.1:c.181C>T	XP_011507671.1:p.Leu61Phe
XM_011509365.2:c.1738C>T	XP_011507667.1:p.Leu580Phe
XM_011509369.2:c.181C>T	XP_011507671.1:p.Leu61Phe
XM_017000851.1:c.895C>T	XP_016856340.1:p.Leu299Phe
XM_017000852.1:c.1738C>T	XP_016856341.1:p.Leu580Phe
NM_201253.3:c.1738C>T MANE Select	NP_957705.1:p.Leu580Phe
NM_001193640.2:c.1402C>T	NP_001180569.1:p.Leu468Phe
NM_001257965.2:c.1531C>T	NP_001244894.1:p.Leu511Phe
NR_047563.2:n.1874+25C>T
NR_047564.2:n.1899C>T
NM_001257966.2:c.1738C>T	NP_001244895.1:p.Leu580Phe