Canonical Allele Identifier: CA344036020

Gene: CRB1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4193C>T MANE Select	ENSP00000356370.3:p.Pro1398Leu
ENST00000367399.6:c.3857C>T	ENSP00000356369.2:p.Pro1286Leu
ENST00000367400.7:c.4193C>T	ENSP00000356370.3:p.Pro1398Leu
ENST00000448952.1:c.427C>T	ENSP00000395407.1:n.427C>T
ENST00000484075.5:c.*304C>T	ENSP00000433932.1:n.*304C>T
ENST00000535699.5:c.4121C>T	ENSP00000438786.1:p.Pro1374Leu
ENST00000538660.5:c.2585C>T	ENSP00000438091.1:p.Pro862Leu
NM_001193640.1:c.3857C>T	NP_001180569.1:p.Pro1286Leu
NM_001257965.1:c.4121C>T	NP_001244894.1:p.Pro1374Leu
NM_001257966.1:c.2585C>T	NP_001244895.1:p.Pro862Leu
NM_201253.2:c.4193C>T	NP_957705.1:p.Pro1398Leu
NR_047563.1:n.4194C>T
NR_047564.1:n.4644C>T
XM_011509366.1:c.*298C>T	XP_011507668.1:n.*298C>T
XM_011509367.1:c.*172C>T	XP_011507669.1:n.*172C>T
XM_011509368.1:c.3611C>T	XP_011507670.1:p.Pro1204Leu
XM_011509369.1:c.2636C>T	XP_011507671.1:p.Pro879Leu
XM_011509369.2:c.2636C>T	XP_011507671.1:p.Pro879Leu
XM_017000851.1:c.3350C>T	XP_016856340.1:p.Pro1117Leu
XM_017000852.1:c.4328C>T	XP_016856341.1:p.Pro1443Leu
NM_201253.3:c.4193C>T MANE Select	NP_957705.1:p.Pro1398Leu
NM_001193640.2:c.3857C>T	NP_001180569.1:p.Pro1286Leu
NM_001257965.2:c.4121C>T	NP_001244894.1:p.Pro1374Leu
NR_047563.2:n.4146C>T
NR_047564.2:n.4596C>T
NM_001257966.2:c.2585C>T	NP_001244895.1:p.Pro862Leu