Canonical Allele Identifier: CA2649673033

Gene: CRB1

Linked Data

• gnomAD v4: 1-197478018-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478018C>T , CM000663.2:g.197478018C>T	GRCh38
NC_000001.10:g.197447148C>T , CM000663.1:g.197447148C>T	GRCh37
NC_000001.9:g.195713771C>T	NCBI36
NG_008483.1:g.214741C>T
NG_008483.2:g.281557C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*139C>T MANE Select	ENSP00000356370.3:n.*139C>T
ENST00000367400.7:c.*139C>T	ENSP00000356370.3:n.*139C>T
ENST00000448952.1:c.594C>T	ENSP00000395407.1:n.594C>T
ENST00000484075.5:c.*471C>T	ENSP00000433932.1:n.*471C>T
ENST00000535699.5:c.*139C>T	ENSP00000438786.1:n.*139C>T
ENST00000538660.5:c.*139C>T	ENSP00000438091.1:n.*139C>T
NM_001193640.1:c.*139C>T	NP_001180569.1:n.*139C>T
NM_001257965.1:c.*139C>T	NP_001244894.1:n.*139C>T
NM_001257966.1:c.*139C>T	NP_001244895.1:n.*139C>T
NM_201253.2:c.*139C>T	NP_957705.1:n.*139C>T
NR_047563.1:n.4361C>T
NR_047564.1:n.4811C>T
XM_011509366.1:c.*465C>T	XP_011507668.1:n.*465C>T
XM_011509367.1:c.*339C>T	XP_011507669.1:n.*339C>T
XM_011509368.1:c.*139C>T	XP_011507670.1:n.*139C>T
XM_011509369.1:c.*139C>T	XP_011507671.1:n.*139C>T
XM_011509369.2:c.*139C>T	XP_011507671.1:n.*139C>T
XM_017000851.1:c.*139C>T	XP_016856340.1:n.*139C>T
XM_017000852.1:c.*139C>T	XP_016856341.1:n.*139C>T
NM_201253.3:c.*139C>T MANE Select	NP_957705.1:n.*139C>T
NM_001193640.2:c.*139C>T	NP_001180569.1:n.*139C>T
NM_001257965.2:c.*139C>T	NP_001244894.1:n.*139C>T
NR_047563.2:n.4313C>T
NR_047564.2:n.4763C>T
NM_001257966.2:c.*139C>T	NP_001244895.1:n.*139C>T