Canonical Allele Identifier: CA422808233

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390461G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421331G>T , CM000663.2:g.197421331G>T	GRCh38
NC_000001.10:g.197390461G>T , CM000663.1:g.197390461G>T	GRCh37
NC_000001.9:g.195657084G>T	NCBI36
NG_008483.1:g.158054G>T
NG_008483.2:g.224870G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1503G>T MANE Select	ENSP00000356370.3:p.Val501=
ENST00000638467.1:c.1503G>T	ENSP00000491102.1:p.Val501=
ENST00000681519.1:c.384G>T	ENSP00000505267.1:p.Val128=
ENST00000367397.1:c.-355G>T	ENSP00000356367.1:n.-355G>T
ENST00000367399.6:c.1167G>T	ENSP00000356369.2:p.Val389=
ENST00000367400.7:c.1503G>T	ENSP00000356370.3:p.Val501=
ENST00000476483.1:n.463G>T
ENST00000484075.5:c.1503G>T	ENSP00000433932.1:p.Val501=
ENST00000535699.5:c.1296G>T	ENSP00000438786.1:p.Val432=
ENST00000538660.5:c.1503G>T	ENSP00000438091.1:p.Val501=
NM_001193640.1:c.1167G>T	NP_001180569.1:p.Val389=
NM_001257965.1:c.1296G>T	NP_001244894.1:p.Val432=
NM_001257966.1:c.1503G>T	NP_001244895.1:p.Val501=
NM_201253.2:c.1503G>T	NP_957705.1:p.Val501=
NR_047563.1:n.1712G>T
NR_047564.1:n.1712G>T
XM_011509365.1:c.1503G>T	XP_011507667.1:p.Val501=
XM_011509366.1:c.1503G>T	XP_011507668.1:p.Val501=
XM_011509367.1:c.1503G>T	XP_011507669.1:p.Val501=
XM_011509368.1:c.921G>T	XP_011507670.1:p.Val307=
XM_011509369.1:c.-55G>T	XP_011507671.1:n.-55G>T
XM_011509365.2:c.1503G>T	XP_011507667.1:p.Val501=
XM_011509369.2:c.-55G>T	XP_011507671.1:n.-55G>T
XM_017000851.1:c.660G>T	XP_016856340.1:p.Val220=
XM_017000852.1:c.1503G>T	XP_016856341.1:p.Val501=
NM_201253.3:c.1503G>T MANE Select	NP_957705.1:p.Val501=
NM_001193640.2:c.1167G>T	NP_001180569.1:p.Val389=
NM_001257965.2:c.1296G>T	NP_001244894.1:p.Val432=
NR_047563.2:n.1664G>T
NR_047564.2:n.1664G>T
NM_001257966.2:c.1503G>T	NP_001244895.1:p.Val501=