Canonical Allele Identifier: CA235770

Gene: CRB1

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421611G>A , CM000663.2:g.197421611G>A	GRCh38
NC_000001.10:g.197390741G>A , CM000663.1:g.197390741G>A	GRCh37
NC_000001.9:g.195657364G>A	NCBI36
NG_008483.1:g.158334G>A
NG_008483.2:g.225150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1783G>A MANE Select	ENSP00000356370.3:p.Ala595Thr
ENST00000638467.1:c.1783G>A	ENSP00000491102.1:p.Ala595Thr
ENST00000681519.1:c.664G>A	ENSP00000505267.1:p.Ala222Thr
ENST00000367397.1:c.-75G>A	ENSP00000356367.1:n.-75G>A
ENST00000367399.6:c.1447G>A	ENSP00000356369.2:p.Ala483Thr
ENST00000367400.7:c.1783G>A	ENSP00000356370.3:p.Ala595Thr
ENST00000484075.5:c.1783G>A	ENSP00000433932.1:p.Ala595Thr
ENST00000535699.5:c.1576G>A	ENSP00000438786.1:p.Ala526Thr
ENST00000538660.5:c.1783G>A	ENSP00000438091.1:p.Ala595Thr
NM_001193640.1:c.1447G>A	NP_001180569.1:p.Ala483Thr
NM_001257965.1:c.1576G>A	NP_001244894.1:p.Ala526Thr
NM_001257966.1:c.1783G>A	NP_001244895.1:p.Ala595Thr
NM_201253.2:c.1783G>A	NP_957705.1:p.Ala595Thr
NR_047563.1:n.1922+70G>A
NR_047564.1:n.1992G>A
XM_011509365.1:c.1783G>A	XP_011507667.1:p.Ala595Thr
XM_011509366.1:c.1783G>A	XP_011507668.1:p.Ala595Thr
XM_011509367.1:c.1783G>A	XP_011507669.1:p.Ala595Thr
XM_011509368.1:c.1201G>A	XP_011507670.1:p.Ala401Thr
XM_011509369.1:c.226G>A	XP_011507671.1:p.Ala76Thr
XM_011509365.2:c.1783G>A	XP_011507667.1:p.Ala595Thr
XM_011509369.2:c.226G>A	XP_011507671.1:p.Ala76Thr
XM_017000851.1:c.940G>A	XP_016856340.1:p.Ala314Thr
XM_017000852.1:c.1783G>A	XP_016856341.1:p.Ala595Thr
NM_201253.3:c.1783G>A MANE Select	NP_957705.1:p.Ala595Thr
NM_001193640.2:c.1447G>A	NP_001180569.1:p.Ala483Thr
NM_001257965.2:c.1576G>A	NP_001244894.1:p.Ala526Thr
NR_047563.2:n.1874+70G>A
NR_047564.2:n.1944G>A
NM_001257966.2:c.1783G>A	NP_001244895.1:p.Ala595Thr