Canonical Allele Identifier: CA2649672977

Gene: CRB1

Linked Data

• gnomAD v4: 1-197477906-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477906A>T , CM000663.2:g.197477906A>T	GRCh38
NC_000001.10:g.197447036A>T , CM000663.1:g.197447036A>T	GRCh37
NC_000001.9:g.195713659A>T	NCBI36
NG_008483.1:g.214629A>T
NG_008483.2:g.281445A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*27A>T MANE Select	ENSP00000356370.3:n.*27A>T
ENST00000367400.7:c.*27A>T	ENSP00000356370.3:n.*27A>T
ENST00000448952.1:c.482A>T	ENSP00000395407.1:n.482A>T
ENST00000484075.5:c.*359A>T	ENSP00000433932.1:n.*359A>T
ENST00000535699.5:c.*27A>T	ENSP00000438786.1:n.*27A>T
ENST00000538660.5:c.*27A>T	ENSP00000438091.1:n.*27A>T
NM_001193640.1:c.*27A>T	NP_001180569.1:n.*27A>T
NM_001257965.1:c.*27A>T	NP_001244894.1:n.*27A>T
NM_001257966.1:c.*27A>T	NP_001244895.1:n.*27A>T
NM_201253.2:c.*27A>T	NP_957705.1:n.*27A>T
NR_047563.1:n.4249A>T
NR_047564.1:n.4699A>T
XM_011509366.1:c.*353A>T	XP_011507668.1:n.*353A>T
XM_011509367.1:c.*227A>T	XP_011507669.1:n.*227A>T
XM_011509368.1:c.*27A>T	XP_011507670.1:n.*27A>T
XM_011509369.1:c.*27A>T	XP_011507671.1:n.*27A>T
XM_011509369.2:c.*27A>T	XP_011507671.1:n.*27A>T
XM_017000851.1:c.*27A>T	XP_016856340.1:n.*27A>T
XM_017000852.1:c.*27A>T	XP_016856341.1:n.*27A>T
NM_201253.3:c.*27A>T MANE Select	NP_957705.1:n.*27A>T
NM_001193640.2:c.*27A>T	NP_001180569.1:n.*27A>T
NM_001257965.2:c.*27A>T	NP_001244894.1:n.*27A>T
NR_047563.2:n.4201A>T
NR_047564.2:n.4651A>T
NM_001257966.2:c.*27A>T	NP_001244895.1:n.*27A>T