Canonical Allele Identifier: CA422809137

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2944499
• ClinVar RCV Id: RCV003808201
• MyVariant Identifiers: chr1:g.197404302A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435172A>G , CM000663.2:g.197435172A>G	GRCh38
NC_000001.10:g.197404302A>G , CM000663.1:g.197404302A>G	GRCh37
NC_000001.9:g.195670925A>G	NCBI36
NG_008483.1:g.171895A>G
NG_008483.2:g.238711A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.3309A>G MANE Select	ENSP00000356370.3:p.Gly1103=
ENST00000638467.1:c.3309A>G	ENSP00000491102.1:p.Gly1103=
ENST00000681519.1:c.2190A>G	ENSP00000505267.1:p.Gly730=
ENST00000367397.1:c.1452A>G	ENSP00000356367.1:p.Gly484=
ENST00000367399.6:c.2973A>G	ENSP00000356369.2:p.Gly991=
ENST00000367400.7:c.3309A>G	ENSP00000356370.3:p.Gly1103=
ENST00000484075.5:c.3309A>G	ENSP00000433932.1:p.Gly1103=
ENST00000535699.5:c.3237A>G	ENSP00000438786.1:p.Gly1079=
ENST00000538660.5:c.2129-428A>G	ENSP00000438091.1:n.2129-428A>G
NM_001193640.1:c.2973A>G	NP_001180569.1:p.Gly991=
NM_001257965.1:c.3237A>G	NP_001244894.1:p.Gly1079=
NM_001257966.1:c.2129-428A>G	NP_001244895.1:n.2129-428A>G
NM_201253.2:c.3309A>G	NP_957705.1:p.Gly1103=
NR_047563.1:n.3310A>G
NR_047564.1:n.3518A>G
XM_011509365.1:c.3309A>G	XP_011507667.1:p.Gly1103=
XM_011509366.1:c.3309A>G	XP_011507668.1:p.Gly1103=
XM_011509367.1:c.3309A>G	XP_011507669.1:p.Gly1103=
XM_011509368.1:c.2727A>G	XP_011507670.1:p.Gly909=
XM_011509369.1:c.1752A>G	XP_011507671.1:p.Gly584=
XM_011509365.2:c.3309A>G	XP_011507667.1:p.Gly1103=
XM_011509369.2:c.1752A>G	XP_011507671.1:p.Gly584=
XM_017000851.1:c.2466A>G	XP_016856340.1:p.Gly822=
XM_017000852.1:c.3444A>G	XP_016856341.1:p.Gly1148=
NM_201253.3:c.3309A>G MANE Select	NP_957705.1:p.Gly1103=
NM_001193640.2:c.2973A>G	NP_001180569.1:p.Gly991=
NM_001257965.2:c.3237A>G	NP_001244894.1:p.Gly1079=
NR_047563.2:n.3262A>G
NR_047564.2:n.3470A>G
NM_001257966.2:c.2129-428A>G	NP_001244895.1:n.2129-428A>G