Canonical Allele Identifier: CA344036017

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446981C>A (hg19) ; chr1:g.197477851C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477851C>A , CM000663.2:g.197477851C>A	GRCh38
NC_000001.10:g.197446981C>A , CM000663.1:g.197446981C>A	GRCh37
NC_000001.9:g.195713604C>A	NCBI36
NG_008483.1:g.214574C>A
NG_008483.2:g.281390C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4193C>A MANE Select	ENSP00000356370.3:p.Pro1398Gln
ENST00000367399.6:c.3857C>A	ENSP00000356369.2:p.Pro1286Gln
ENST00000367400.7:c.4193C>A	ENSP00000356370.3:p.Pro1398Gln
ENST00000448952.1:c.427C>A	ENSP00000395407.1:n.427C>A
ENST00000484075.5:c.*304C>A	ENSP00000433932.1:n.*304C>A
ENST00000535699.5:c.4121C>A	ENSP00000438786.1:p.Pro1374Gln
ENST00000538660.5:c.2585C>A	ENSP00000438091.1:p.Pro862Gln
NM_001193640.1:c.3857C>A	NP_001180569.1:p.Pro1286Gln
NM_001257965.1:c.4121C>A	NP_001244894.1:p.Pro1374Gln
NM_001257966.1:c.2585C>A	NP_001244895.1:p.Pro862Gln
NM_201253.2:c.4193C>A	NP_957705.1:p.Pro1398Gln
NR_047563.1:n.4194C>A
NR_047564.1:n.4644C>A
XM_011509366.1:c.*298C>A	XP_011507668.1:n.*298C>A
XM_011509367.1:c.*172C>A	XP_011507669.1:n.*172C>A
XM_011509368.1:c.3611C>A	XP_011507670.1:p.Pro1204Gln
XM_011509369.1:c.2636C>A	XP_011507671.1:p.Pro879Gln
XM_011509369.2:c.2636C>A	XP_011507671.1:p.Pro879Gln
XM_017000851.1:c.3350C>A	XP_016856340.1:p.Pro1117Gln
XM_017000852.1:c.4328C>A	XP_016856341.1:p.Pro1443Gln
NM_201253.3:c.4193C>A MANE Select	NP_957705.1:p.Pro1398Gln
NM_001193640.2:c.3857C>A	NP_001180569.1:p.Pro1286Gln
NM_001257965.2:c.4121C>A	NP_001244894.1:p.Pro1374Gln
NR_047563.2:n.4146C>A
NR_047564.2:n.4596C>A
NM_001257966.2:c.2585C>A	NP_001244895.1:p.Pro862Gln