Canonical Allele Identifier: CA422809301

Gene: CRB1

Linked Data

• gnomAD v4: 1-197435253-C-A
• MyVariant Identifiers: chr1:g.197404383C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435253C>A , CM000663.2:g.197435253C>A	GRCh38
NC_000001.10:g.197404383C>A , CM000663.1:g.197404383C>A	GRCh37
NC_000001.9:g.195671006C>A	NCBI36
NG_008483.1:g.171976C>A
NG_008483.2:g.238792C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3390C>A MANE Select	ENSP00000356370.3:p.Thr1130=
ENST00000638467.1:c.3390C>A	ENSP00000491102.1:p.Thr1130=
ENST00000681519.1:c.2271C>A	ENSP00000505267.1:p.Thr757=
ENST00000367397.1:c.1533C>A	ENSP00000356367.1:p.Thr511=
ENST00000367399.6:c.3054C>A	ENSP00000356369.2:p.Thr1018=
ENST00000367400.7:c.3390C>A	ENSP00000356370.3:p.Thr1130=
ENST00000484075.5:c.3390C>A	ENSP00000433932.1:p.Thr1130=
ENST00000535699.5:c.3318C>A	ENSP00000438786.1:p.Thr1106=
ENST00000538660.5:c.2129-347C>A	ENSP00000438091.1:n.2129-347C>A
NM_001193640.1:c.3054C>A	NP_001180569.1:p.Thr1018=
NM_001257965.1:c.3318C>A	NP_001244894.1:p.Thr1106=
NM_001257966.1:c.2129-347C>A	NP_001244895.1:n.2129-347C>A
NM_201253.2:c.3390C>A	NP_957705.1:p.Thr1130=
NR_047563.1:n.3391C>A
NR_047564.1:n.3599C>A
XM_011509365.1:c.3390C>A	XP_011507667.1:p.Thr1130=
XM_011509366.1:c.3390C>A	XP_011507668.1:p.Thr1130=
XM_011509367.1:c.3390C>A	XP_011507669.1:p.Thr1130=
XM_011509368.1:c.2808C>A	XP_011507670.1:p.Thr936=
XM_011509369.1:c.1833C>A	XP_011507671.1:p.Thr611=
XM_011509365.2:c.3390C>A	XP_011507667.1:p.Thr1130=
XM_011509369.2:c.1833C>A	XP_011507671.1:p.Thr611=
XM_017000851.1:c.2547C>A	XP_016856340.1:p.Thr849=
XM_017000852.1:c.3525C>A	XP_016856341.1:p.Thr1175=
NM_201253.3:c.3390C>A MANE Select	NP_957705.1:p.Thr1130=
NM_001193640.2:c.3054C>A	NP_001180569.1:p.Thr1018=
NM_001257965.2:c.3318C>A	NP_001244894.1:p.Thr1106=
NR_047563.2:n.3343C>A
NR_047564.2:n.3551C>A
NM_001257966.2:c.2129-347C>A	NP_001244895.1:n.2129-347C>A