Canonical Allele Identifier: CA422677614

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1104526
• ClinVar RCV Id: RCV001428580
• dbSNP Id: rs2125574291
• MyVariant Identifiers: chr1:g.197446985C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477855C>T , CM000663.2:g.197477855C>T	GRCh38
NC_000001.10:g.197446985C>T , CM000663.1:g.197446985C>T	GRCh37
NC_000001.9:g.195713608C>T	NCBI36
NG_008483.1:g.214578C>T
NG_008483.2:g.281394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4197C>T MANE Select	ENSP00000356370.3:p.Pro1399=
ENST00000367399.6:c.3861C>T	ENSP00000356369.2:p.Pro1287=
ENST00000367400.7:c.4197C>T	ENSP00000356370.3:p.Pro1399=
ENST00000448952.1:c.431C>T	ENSP00000395407.1:n.431C>T
ENST00000484075.5:c.*308C>T	ENSP00000433932.1:n.*308C>T
ENST00000535699.5:c.4125C>T	ENSP00000438786.1:p.Pro1375=
ENST00000538660.5:c.2589C>T	ENSP00000438091.1:p.Pro863=
NM_001193640.1:c.3861C>T	NP_001180569.1:p.Pro1287=
NM_001257965.1:c.4125C>T	NP_001244894.1:p.Pro1375=
NM_001257966.1:c.2589C>T	NP_001244895.1:p.Pro863=
NM_201253.2:c.4197C>T	NP_957705.1:p.Pro1399=
NR_047563.1:n.4198C>T
NR_047564.1:n.4648C>T
XM_011509366.1:c.*302C>T	XP_011507668.1:n.*302C>T
XM_011509367.1:c.*176C>T	XP_011507669.1:n.*176C>T
XM_011509368.1:c.3615C>T	XP_011507670.1:p.Pro1205=
XM_011509369.1:c.2640C>T	XP_011507671.1:p.Pro880=
XM_011509369.2:c.2640C>T	XP_011507671.1:p.Pro880=
XM_017000851.1:c.3354C>T	XP_016856340.1:p.Pro1118=
XM_017000852.1:c.4332C>T	XP_016856341.1:p.Pro1444=
NM_201253.3:c.4197C>T MANE Select	NP_957705.1:p.Pro1399=
NM_001193640.2:c.3861C>T	NP_001180569.1:p.Pro1287=
NM_001257965.2:c.4125C>T	NP_001244894.1:p.Pro1375=
NR_047563.2:n.4150C>T
NR_047564.2:n.4600C>T
NM_001257966.2:c.2589C>T	NP_001244895.1:p.Pro863=