Canonical Allele Identifier: CA344036631

Gene: CRB1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427532C>G , CM000663.2:g.197427532C>G	GRCh38
NC_000001.10:g.197396662C>G , CM000663.1:g.197396662C>G	GRCh37
NC_000001.9:g.195663285C>G	NCBI36
NG_008483.1:g.164255C>G
NG_008483.2:g.231071C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2207C>G MANE Select	ENSP00000356370.3:p.Thr736Ser
ENST00000638467.1:c.2207C>G	ENSP00000491102.1:p.Thr736Ser
ENST00000681519.1:c.1088C>G	ENSP00000505267.1:p.Thr363Ser
ENST00000367397.1:c.350C>G	ENSP00000356367.1:p.Thr117Ser
ENST00000367399.6:c.1871C>G	ENSP00000356369.2:p.Thr624Ser
ENST00000367400.7:c.2207C>G	ENSP00000356370.3:p.Thr736Ser
ENST00000480086.2:n.108C>G
ENST00000484075.5:c.2207C>G	ENSP00000433932.1:p.Thr736Ser
ENST00000535699.5:c.2000C>G	ENSP00000438786.1:p.Thr667Ser
ENST00000538660.5:c.2128+5576C>G	ENSP00000438091.1:n.2128+5576C>G
NM_001193640.1:c.1871C>G	NP_001180569.1:p.Thr624Ser
NM_001257965.1:c.2000C>G	NP_001244894.1:p.Thr667Ser
NM_001257966.1:c.2128+5576C>G	NP_001244895.1:n.2128+5576C>G
NM_201253.2:c.2207C>G	NP_957705.1:p.Thr736Ser
NR_047563.1:n.2208C>G
NR_047564.1:n.2416C>G
XM_011509365.1:c.2207C>G	XP_011507667.1:p.Thr736Ser
XM_011509366.1:c.2207C>G	XP_011507668.1:p.Thr736Ser
XM_011509367.1:c.2207C>G	XP_011507669.1:p.Thr736Ser
XM_011509368.1:c.1625C>G	XP_011507670.1:p.Thr542Ser
XM_011509369.1:c.650C>G	XP_011507671.1:p.Thr217Ser
XM_011509365.2:c.2207C>G	XP_011507667.1:p.Thr736Ser
XM_011509369.2:c.650C>G	XP_011507671.1:p.Thr217Ser
XM_017000851.1:c.1364C>G	XP_016856340.1:p.Thr455Ser
XM_017000852.1:c.2207C>G	XP_016856341.1:p.Thr736Ser
NM_201253.3:c.2207C>G MANE Select	NP_957705.1:p.Thr736Ser
NM_001193640.2:c.1871C>G	NP_001180569.1:p.Thr624Ser
NM_001257965.2:c.2000C>G	NP_001244894.1:p.Thr667Ser
NR_047563.2:n.2160C>G
NR_047564.2:n.2368C>G
NM_001257966.2:c.2128+5576C>G	NP_001244895.1:n.2128+5576C>G