Canonical Allele Identifier: CA1312422

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197438676G>A , CM000663.2:g.197438676G>A	GRCh38
NC_000001.10:g.197407806G>A , CM000663.1:g.197407806G>A	GRCh37
NC_000001.9:g.195674429G>A	NCBI36
NG_008483.1:g.175399G>A
NG_008483.2:g.242215G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3878+1G>A MANE Select	NP_957705.1:n.3878+1G>A
ENST00000367400.8:c.3878+1G>A MANE Select	ENSP00000356370.3:n.3878+1G>A
NM_001193640.1:c.3542+1G>A	NP_001180569.1:n.3542+1G>A
NM_001193640.2:c.3542+1G>A	NP_001180569.1:n.3542+1G>A
NM_001257965.1:c.3806+1G>A	NP_001244894.1:n.3806+1G>A
NM_001257965.2:c.3806+1G>A	NP_001244894.1:n.3806+1G>A
NM_001257966.1:c.2270+1G>A	NP_001244895.1:n.2270+1G>A
NM_001257966.2:c.2270+1G>A	NP_001244895.1:n.2270+1G>A
NM_201253.2:c.3878+1G>A	NP_957705.1:n.3878+1G>A
NR_047563.1:n.3879+1G>A
NR_047563.2:n.3831+1G>A
NR_047564.1:n.4087+1G>A
NR_047564.2:n.4039+1G>A
ENST00000367397.1:c.2022G>A	ENSP00000356367.1:p.Trp674Ter
ENST00000367399.6:c.3542+1G>A	ENSP00000356369.2:n.3542+1G>A
ENST00000367400.7:c.3878+1G>A	ENSP00000356370.3:n.3878+1G>A
ENST00000484075.5:c.3878+1G>A	ENSP00000433932.1:n.3878+1G>A
ENST00000535699.5:c.3806+1G>A	ENSP00000438786.1:n.3806+1G>A
ENST00000538660.5:c.2270+1G>A	ENSP00000438091.1:n.2270+1G>A
ENST00000638467.1:c.3878+1G>A	ENSP00000491102.1:n.3878+1G>A
ENST00000681519.1:c.2759+1G>A	ENSP00000505267.1:n.2759+1G>A
XM_011509365.1:c.3878+1G>A	XP_011507667.1:n.3878+1G>A
XM_011509365.2:c.3878+1G>A	XP_011507667.1:n.3878+1G>A
XM_011509366.1:c.3878+1G>A	XP_011507668.1:n.3878+1G>A
XM_011509367.1:c.3878+1G>A	XP_011507669.1:n.3878+1G>A
XM_011509368.1:c.3296+1G>A	XP_011507670.1:n.3296+1G>A
XM_011509369.1:c.2321+1G>A	XP_011507671.1:n.2321+1G>A
XM_011509369.2:c.2321+1G>A	XP_011507671.1:n.2321+1G>A
XM_017000851.1:c.3035+1G>A	XP_016856340.1:n.3035+1G>A
XM_017000852.1:c.4013+1G>A	XP_016856341.1:n.4013+1G>A