Canonical Allele Identifier: CA422677502

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446847C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477717C>A , CM000663.2:g.197477717C>A	GRCh38
NC_000001.10:g.197446847C>A , CM000663.1:g.197446847C>A	GRCh37
NC_000001.9:g.195713470C>A	NCBI36
NG_008483.1:g.214440C>A
NG_008483.2:g.281256C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4059C>A MANE Select	ENSP00000356370.3:p.Val1353=
ENST00000367399.6:c.3723C>A	ENSP00000356369.2:p.Val1241=
ENST00000367400.7:c.4059C>A	ENSP00000356370.3:p.Val1353=
ENST00000448952.1:c.293C>A	ENSP00000395407.1:n.293C>A
ENST00000484075.5:c.*170C>A	ENSP00000433932.1:n.*170C>A
ENST00000535699.5:c.3987C>A	ENSP00000438786.1:p.Val1329=
ENST00000538660.5:c.2451C>A	ENSP00000438091.1:p.Val817=
NM_001193640.1:c.3723C>A	NP_001180569.1:p.Val1241=
NM_001257965.1:c.3987C>A	NP_001244894.1:p.Val1329=
NM_001257966.1:c.2451C>A	NP_001244895.1:p.Val817=
NM_201253.2:c.4059C>A	NP_957705.1:p.Val1353=
NR_047563.1:n.4060C>A
NR_047564.1:n.4510C>A
XM_011509366.1:c.*164C>A	XP_011507668.1:n.*164C>A
XM_011509367.1:c.*38C>A	XP_011507669.1:n.*38C>A
XM_011509368.1:c.3477C>A	XP_011507670.1:p.Val1159=
XM_011509369.1:c.2502C>A	XP_011507671.1:p.Val834=
XM_011509369.2:c.2502C>A	XP_011507671.1:p.Val834=
XM_017000851.1:c.3216C>A	XP_016856340.1:p.Val1072=
XM_017000852.1:c.4194C>A	XP_016856341.1:p.Val1398=
NM_201253.3:c.4059C>A MANE Select	NP_957705.1:p.Val1353=
NM_001193640.2:c.3723C>A	NP_001180569.1:p.Val1241=
NM_001257965.2:c.3987C>A	NP_001244894.1:p.Val1329=
NR_047563.2:n.4012C>A
NR_047564.2:n.4462C>A
NM_001257966.2:c.2451C>A	NP_001244895.1:p.Val817=