Canonical Allele Identifier: CA1312032

Gene: CRB1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421931C>G , CM000663.2:g.197421931C>G	GRCh38
NC_000001.10:g.197391061C>G , CM000663.1:g.197391061C>G	GRCh37
NC_000001.9:g.195657684C>G	NCBI36
NG_008483.1:g.158654C>G
NG_008483.2:g.225470C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2103C>G MANE Select	ENSP00000356370.3:p.Pro701=
ENST00000638467.1:c.2103C>G	ENSP00000491102.1:p.Pro701=
ENST00000681519.1:c.984C>G	ENSP00000505267.1:p.Pro328=
ENST00000367397.1:c.246C>G	ENSP00000356367.1:p.Pro82=
ENST00000367399.6:c.1767C>G	ENSP00000356369.2:p.Pro589=
ENST00000367400.7:c.2103C>G	ENSP00000356370.3:p.Pro701=
ENST00000484075.5:c.2103C>G	ENSP00000433932.1:p.Pro701=
ENST00000535699.5:c.1896C>G	ENSP00000438786.1:p.Pro632=
ENST00000538660.5:c.2103C>G	ENSP00000438091.1:p.Pro701=
NM_001193640.1:c.1767C>G	NP_001180569.1:p.Pro589=
NM_001257965.1:c.1896C>G	NP_001244894.1:p.Pro632=
NM_001257966.1:c.2103C>G	NP_001244895.1:p.Pro701=
NM_201253.2:c.2103C>G	NP_957705.1:p.Pro701=
NR_047563.1:n.2104C>G
NR_047564.1:n.2312C>G
XM_011509365.1:c.2103C>G	XP_011507667.1:p.Pro701=
XM_011509366.1:c.2103C>G	XP_011507668.1:p.Pro701=
XM_011509367.1:c.2103C>G	XP_011507669.1:p.Pro701=
XM_011509368.1:c.1521C>G	XP_011507670.1:p.Pro507=
XM_011509369.1:c.546C>G	XP_011507671.1:p.Pro182=
XM_011509365.2:c.2103C>G	XP_011507667.1:p.Pro701=
XM_011509369.2:c.546C>G	XP_011507671.1:p.Pro182=
XM_017000851.1:c.1260C>G	XP_016856340.1:p.Pro420=
XM_017000852.1:c.2103C>G	XP_016856341.1:p.Pro701=
NM_201253.3:c.2103C>G MANE Select	NP_957705.1:p.Pro701=
NM_001193640.2:c.1767C>G	NP_001180569.1:p.Pro589=
NM_001257965.2:c.1896C>G	NP_001244894.1:p.Pro632=
NR_047563.2:n.2056C>G
NR_047564.2:n.2264C>G
NM_001257966.2:c.2103C>G	NP_001244895.1:p.Pro701=