Canonical Allele Identifier: CA1312076

Gene: CRB1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427540C>T , CM000663.2:g.197427540C>T	GRCh38
NC_000001.10:g.197396670C>T , CM000663.1:g.197396670C>T	GRCh37
NC_000001.9:g.195663293C>T	NCBI36
NG_008483.1:g.164263C>T
NG_008483.2:g.231079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2215C>T MANE Select	ENSP00000356370.3:p.Leu739Phe
ENST00000638467.1:c.2215C>T	ENSP00000491102.1:p.Leu739Phe
ENST00000681519.1:c.1096C>T	ENSP00000505267.1:p.Leu366Phe
ENST00000367397.1:c.358C>T	ENSP00000356367.1:p.Leu120Phe
ENST00000367399.6:c.1879C>T	ENSP00000356369.2:p.Leu627Phe
ENST00000367400.7:c.2215C>T	ENSP00000356370.3:p.Leu739Phe
ENST00000480086.2:n.116C>T
ENST00000484075.5:c.2215C>T	ENSP00000433932.1:p.Leu739Phe
ENST00000535699.5:c.2008C>T	ENSP00000438786.1:p.Leu670Phe
ENST00000538660.5:c.2128+5584C>T	ENSP00000438091.1:n.2128+5584C>T
NM_001193640.1:c.1879C>T	NP_001180569.1:p.Leu627Phe
NM_001257965.1:c.2008C>T	NP_001244894.1:p.Leu670Phe
NM_001257966.1:c.2128+5584C>T	NP_001244895.1:n.2128+5584C>T
NM_201253.2:c.2215C>T	NP_957705.1:p.Leu739Phe
NR_047563.1:n.2216C>T
NR_047564.1:n.2424C>T
XM_011509365.1:c.2215C>T	XP_011507667.1:p.Leu739Phe
XM_011509366.1:c.2215C>T	XP_011507668.1:p.Leu739Phe
XM_011509367.1:c.2215C>T	XP_011507669.1:p.Leu739Phe
XM_011509368.1:c.1633C>T	XP_011507670.1:p.Leu545Phe
XM_011509369.1:c.658C>T	XP_011507671.1:p.Leu220Phe
XM_011509365.2:c.2215C>T	XP_011507667.1:p.Leu739Phe
XM_011509369.2:c.658C>T	XP_011507671.1:p.Leu220Phe
XM_017000851.1:c.1372C>T	XP_016856340.1:p.Leu458Phe
XM_017000852.1:c.2215C>T	XP_016856341.1:p.Leu739Phe
NM_201253.3:c.2215C>T MANE Select	NP_957705.1:p.Leu739Phe
NM_001193640.2:c.1879C>T	NP_001180569.1:p.Leu627Phe
NM_001257965.2:c.2008C>T	NP_001244894.1:p.Leu670Phe
NR_047563.2:n.2168C>T
NR_047564.2:n.2376C>T
NM_001257966.2:c.2128+5584C>T	NP_001244895.1:n.2128+5584C>T