Canonical Allele Identifier: CA1311892

Gene: CRB1

Linked Data

• dbSNP Id: rs771963223
• ExAC: 1:197390173 T / A
• gnomAD v2: 1-197390173-T-A
• MyVariant Identifiers: chr1:g.197390173T>A (hg19) ; chr1:g.197421043T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421043T>A , CM000663.2:g.197421043T>A	GRCh38
NC_000001.10:g.197390173T>A , CM000663.1:g.197390173T>A	GRCh37
NC_000001.9:g.195656796T>A	NCBI36
NG_008483.1:g.157766T>A
NG_008483.2:g.224582T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1215T>A MANE Select	ENSP00000356370.3:p.Pro405=
ENST00000638467.1:c.1215T>A	ENSP00000491102.1:p.Pro405=
ENST00000681519.1:c.96T>A	ENSP00000505267.1:p.Pro32=
ENST00000367397.1:c.-643T>A	ENSP00000356367.1:n.-643T>A
ENST00000367399.6:c.879T>A	ENSP00000356369.2:p.Pro293=
ENST00000367400.7:c.1215T>A	ENSP00000356370.3:p.Pro405=
ENST00000476483.1:n.175T>A
ENST00000484075.5:c.1215T>A	ENSP00000433932.1:p.Pro405=
ENST00000535699.5:c.1008T>A	ENSP00000438786.1:p.Pro336=
ENST00000538660.5:c.1215T>A	ENSP00000438091.1:p.Pro405=
NM_001193640.1:c.879T>A	NP_001180569.1:p.Pro293=
NM_001257965.1:c.1008T>A	NP_001244894.1:p.Pro336=
NM_001257966.1:c.1215T>A	NP_001244895.1:p.Pro405=
NM_201253.2:c.1215T>A	NP_957705.1:p.Pro405=
NR_047563.1:n.1424T>A
NR_047564.1:n.1424T>A
XM_011509365.1:c.1215T>A	XP_011507667.1:p.Pro405=
XM_011509366.1:c.1215T>A	XP_011507668.1:p.Pro405=
XM_011509367.1:c.1215T>A	XP_011507669.1:p.Pro405=
XM_011509368.1:c.633T>A	XP_011507670.1:p.Pro211=
XM_011509369.1:c.-343T>A	XP_011507671.1:n.-343T>A
XM_011509365.2:c.1215T>A	XP_011507667.1:p.Pro405=
XM_011509369.2:c.-343T>A	XP_011507671.1:n.-343T>A
XM_017000851.1:c.372T>A	XP_016856340.1:p.Pro124=
XM_017000852.1:c.1215T>A	XP_016856341.1:p.Pro405=
NM_201253.3:c.1215T>A MANE Select	NP_957705.1:p.Pro405=
NM_001193640.2:c.879T>A	NP_001180569.1:p.Pro293=
NM_001257965.2:c.1008T>A	NP_001244894.1:p.Pro336=
NR_047563.2:n.1376T>A
NR_047564.2:n.1376T>A
NM_001257966.2:c.1215T>A	NP_001244895.1:p.Pro405=