Canonical Allele Identifier: CA422677520

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446869C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477739C>T , CM000663.2:g.197477739C>T	GRCh38
NC_000001.10:g.197446869C>T , CM000663.1:g.197446869C>T	GRCh37
NC_000001.9:g.195713492C>T	NCBI36
NG_008483.1:g.214462C>T
NG_008483.2:g.281278C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4081C>T MANE Select	ENSP00000356370.3:p.Leu1361=
ENST00000367399.6:c.3745C>T	ENSP00000356369.2:p.Leu1249=
ENST00000367400.7:c.4081C>T	ENSP00000356370.3:p.Leu1361=
ENST00000448952.1:c.315C>T	ENSP00000395407.1:n.315C>T
ENST00000484075.5:c.*192C>T	ENSP00000433932.1:n.*192C>T
ENST00000535699.5:c.4009C>T	ENSP00000438786.1:p.Leu1337=
ENST00000538660.5:c.2473C>T	ENSP00000438091.1:p.Leu825=
NM_001193640.1:c.3745C>T	NP_001180569.1:p.Leu1249=
NM_001257965.1:c.4009C>T	NP_001244894.1:p.Leu1337=
NM_001257966.1:c.2473C>T	NP_001244895.1:p.Leu825=
NM_201253.2:c.4081C>T	NP_957705.1:p.Leu1361=
NR_047563.1:n.4082C>T
NR_047564.1:n.4532C>T
XM_011509366.1:c.*186C>T	XP_011507668.1:n.*186C>T
XM_011509367.1:c.*60C>T	XP_011507669.1:n.*60C>T
XM_011509368.1:c.3499C>T	XP_011507670.1:p.Leu1167=
XM_011509369.1:c.2524C>T	XP_011507671.1:p.Leu842=
XM_011509369.2:c.2524C>T	XP_011507671.1:p.Leu842=
XM_017000851.1:c.3238C>T	XP_016856340.1:p.Leu1080=
XM_017000852.1:c.4216C>T	XP_016856341.1:p.Leu1406=
NM_201253.3:c.4081C>T MANE Select	NP_957705.1:p.Leu1361=
NM_001193640.2:c.3745C>T	NP_001180569.1:p.Leu1249=
NM_001257965.2:c.4009C>T	NP_001244894.1:p.Leu1337=
NR_047563.2:n.4034C>T
NR_047564.2:n.4484C>T
NM_001257966.2:c.2473C>T	NP_001244895.1:p.Leu825=