Canonical Allele Identifier: CA344036660

Gene: CRB1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427539C>G , CM000663.2:g.197427539C>G	GRCh38
NC_000001.10:g.197396669C>G , CM000663.1:g.197396669C>G	GRCh37
NC_000001.9:g.195663292C>G	NCBI36
NG_008483.1:g.164262C>G
NG_008483.2:g.231078C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2214C>G MANE Select	ENSP00000356370.3:p.Ser738Arg
ENST00000638467.1:c.2214C>G	ENSP00000491102.1:p.Ser738Arg
ENST00000681519.1:c.1095C>G	ENSP00000505267.1:p.Ser365Arg
ENST00000367397.1:c.357C>G	ENSP00000356367.1:p.Ser119Arg
ENST00000367399.6:c.1878C>G	ENSP00000356369.2:p.Ser626Arg
ENST00000367400.7:c.2214C>G	ENSP00000356370.3:p.Ser738Arg
ENST00000480086.2:n.115C>G
ENST00000484075.5:c.2214C>G	ENSP00000433932.1:p.Ser738Arg
ENST00000535699.5:c.2007C>G	ENSP00000438786.1:p.Ser669Arg
ENST00000538660.5:c.2128+5583C>G	ENSP00000438091.1:n.2128+5583C>G
NM_001193640.1:c.1878C>G	NP_001180569.1:p.Ser626Arg
NM_001257965.1:c.2007C>G	NP_001244894.1:p.Ser669Arg
NM_001257966.1:c.2128+5583C>G	NP_001244895.1:n.2128+5583C>G
NM_201253.2:c.2214C>G	NP_957705.1:p.Ser738Arg
NR_047563.1:n.2215C>G
NR_047564.1:n.2423C>G
XM_011509365.1:c.2214C>G	XP_011507667.1:p.Ser738Arg
XM_011509366.1:c.2214C>G	XP_011507668.1:p.Ser738Arg
XM_011509367.1:c.2214C>G	XP_011507669.1:p.Ser738Arg
XM_011509368.1:c.1632C>G	XP_011507670.1:p.Ser544Arg
XM_011509369.1:c.657C>G	XP_011507671.1:p.Ser219Arg
XM_011509365.2:c.2214C>G	XP_011507667.1:p.Ser738Arg
XM_011509369.2:c.657C>G	XP_011507671.1:p.Ser219Arg
XM_017000851.1:c.1371C>G	XP_016856340.1:p.Ser457Arg
XM_017000852.1:c.2214C>G	XP_016856341.1:p.Ser738Arg
NM_201253.3:c.2214C>G MANE Select	NP_957705.1:p.Ser738Arg
NM_001193640.2:c.1878C>G	NP_001180569.1:p.Ser626Arg
NM_001257965.2:c.2007C>G	NP_001244894.1:p.Ser669Arg
NR_047563.2:n.2167C>G
NR_047564.2:n.2375C>G
NM_001257966.2:c.2128+5583C>G	NP_001244895.1:n.2128+5583C>G