Canonical Allele Identifier: CA35900398

Gene: CRB1

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427559C>A , CM000663.2:g.197427559C>A	GRCh38
NC_000001.10:g.197396689C>A , CM000663.1:g.197396689C>A	GRCh37
NC_000001.9:g.195663312C>A	NCBI36
NG_008483.1:g.164282C>A
NG_008483.2:g.231098C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2234C>A MANE Select	ENSP00000356370.3:p.Thr745Lys
ENST00000638467.1:c.2234C>A	ENSP00000491102.1:p.Thr745Lys
ENST00000681519.1:c.1115C>A	ENSP00000505267.1:p.Thr372Lys
ENST00000367397.1:c.377C>A	ENSP00000356367.1:p.Thr126Lys
ENST00000367399.6:c.1898C>A	ENSP00000356369.2:p.Thr633Lys
ENST00000367400.7:c.2234C>A	ENSP00000356370.3:p.Thr745Lys
ENST00000480086.2:n.135C>A
ENST00000484075.5:c.2234C>A	ENSP00000433932.1:p.Thr745Lys
ENST00000535699.5:c.2027C>A	ENSP00000438786.1:p.Thr676Lys
ENST00000538660.5:c.2128+5603C>A	ENSP00000438091.1:n.2128+5603C>A
NM_001193640.1:c.1898C>A	NP_001180569.1:p.Thr633Lys
NM_001257965.1:c.2027C>A	NP_001244894.1:p.Thr676Lys
NM_001257966.1:c.2128+5603C>A	NP_001244895.1:n.2128+5603C>A
NM_201253.2:c.2234C>A	NP_957705.1:p.Thr745Lys
NR_047563.1:n.2235C>A
NR_047564.1:n.2443C>A
XM_011509365.1:c.2234C>A	XP_011507667.1:p.Thr745Lys
XM_011509366.1:c.2234C>A	XP_011507668.1:p.Thr745Lys
XM_011509367.1:c.2234C>A	XP_011507669.1:p.Thr745Lys
XM_011509368.1:c.1652C>A	XP_011507670.1:p.Thr551Lys
XM_011509369.1:c.677C>A	XP_011507671.1:p.Thr226Lys
XM_011509365.2:c.2234C>A	XP_011507667.1:p.Thr745Lys
XM_011509369.2:c.677C>A	XP_011507671.1:p.Thr226Lys
XM_017000851.1:c.1391C>A	XP_016856340.1:p.Thr464Lys
XM_017000852.1:c.2234C>A	XP_016856341.1:p.Thr745Lys
NM_201253.3:c.2234C>A MANE Select	NP_957705.1:p.Thr745Lys
NM_001193640.2:c.1898C>A	NP_001180569.1:p.Thr633Lys
NM_001257965.2:c.2027C>A	NP_001244894.1:p.Thr676Lys
NR_047563.2:n.2187C>A
NR_047564.2:n.2395C>A
NM_001257966.2:c.2128+5603C>A	NP_001244895.1:n.2128+5603C>A