Canonical Allele Identifier: CA1312576

Gene: CRB1

Linked Data

• dbSNP Id: rs199582748
• ExAC: 1:197447021 C / T
• gnomAD v2: 1-197447021-C-T
• gnomAD v3: 1-197477891-C-T
• gnomAD v4: 1-197477891-C-T
• MyVariant Identifiers: chr1:g.197447021C>T (hg19) ; chr1:g.197477891C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477891C>T , CM000663.2:g.197477891C>T	GRCh38
NC_000001.10:g.197447021C>T , CM000663.1:g.197447021C>T	GRCh37
NC_000001.9:g.195713644C>T	NCBI36
NG_008483.1:g.214614C>T
NG_008483.2:g.281430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*12C>T MANE Select	ENSP00000356370.3:n.*12C>T
ENST00000367400.7:c.*12C>T	ENSP00000356370.3:n.*12C>T
ENST00000448952.1:c.467C>T	ENSP00000395407.1:n.467C>T
ENST00000484075.5:c.*344C>T	ENSP00000433932.1:n.*344C>T
ENST00000535699.5:c.*12C>T	ENSP00000438786.1:n.*12C>T
ENST00000538660.5:c.*12C>T	ENSP00000438091.1:n.*12C>T
NM_001193640.1:c.*12C>T	NP_001180569.1:n.*12C>T
NM_001257965.1:c.*12C>T	NP_001244894.1:n.*12C>T
NM_001257966.1:c.*12C>T	NP_001244895.1:n.*12C>T
NM_201253.2:c.*12C>T	NP_957705.1:n.*12C>T
NR_047563.1:n.4234C>T
NR_047564.1:n.4684C>T
XM_011509366.1:c.*338C>T	XP_011507668.1:n.*338C>T
XM_011509367.1:c.*212C>T	XP_011507669.1:n.*212C>T
XM_011509368.1:c.*12C>T	XP_011507670.1:n.*12C>T
XM_011509369.1:c.*12C>T	XP_011507671.1:n.*12C>T
XM_011509369.2:c.*12C>T	XP_011507671.1:n.*12C>T
XM_017000851.1:c.*12C>T	XP_016856340.1:n.*12C>T
XM_017000852.1:c.*12C>T	XP_016856341.1:n.*12C>T
NM_201253.3:c.*12C>T MANE Select	NP_957705.1:n.*12C>T
NM_001193640.2:c.*12C>T	NP_001180569.1:n.*12C>T
NM_001257965.2:c.*12C>T	NP_001244894.1:n.*12C>T
NR_047563.2:n.4186C>T
NR_047564.2:n.4636C>T
NM_001257966.2:c.*12C>T	NP_001244895.1:n.*12C>T