Canonical Allele Identifier: CA422808534

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390800T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421670T>A , CM000663.2:g.197421670T>A	GRCh38
NC_000001.10:g.197390800T>A , CM000663.1:g.197390800T>A	GRCh37
NC_000001.9:g.195657423T>A	NCBI36
NG_008483.1:g.158393T>A
NG_008483.2:g.225209T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1842T>A MANE Select	ENSP00000356370.3:p.Gly614=
ENST00000638467.1:c.1842T>A	ENSP00000491102.1:p.Gly614=
ENST00000681519.1:c.723T>A	ENSP00000505267.1:p.Gly241=
ENST00000367397.1:c.-16T>A	ENSP00000356367.1:n.-16T>A
ENST00000367399.6:c.1506T>A	ENSP00000356369.2:p.Gly502=
ENST00000367400.7:c.1842T>A	ENSP00000356370.3:p.Gly614=
ENST00000484075.5:c.1842T>A	ENSP00000433932.1:p.Gly614=
ENST00000535699.5:c.1635T>A	ENSP00000438786.1:p.Gly545=
ENST00000538660.5:c.1842T>A	ENSP00000438091.1:p.Gly614=
NM_001193640.1:c.1506T>A	NP_001180569.1:p.Gly502=
NM_001257965.1:c.1635T>A	NP_001244894.1:p.Gly545=
NM_001257966.1:c.1842T>A	NP_001244895.1:p.Gly614=
NM_201253.2:c.1842T>A	NP_957705.1:p.Gly614=
NR_047563.1:n.1923-80T>A
NR_047564.1:n.2051T>A
XM_011509365.1:c.1842T>A	XP_011507667.1:p.Gly614=
XM_011509366.1:c.1842T>A	XP_011507668.1:p.Gly614=
XM_011509367.1:c.1842T>A	XP_011507669.1:p.Gly614=
XM_011509368.1:c.1260T>A	XP_011507670.1:p.Gly420=
XM_011509369.1:c.285T>A	XP_011507671.1:p.Gly95=
XM_011509365.2:c.1842T>A	XP_011507667.1:p.Gly614=
XM_011509369.2:c.285T>A	XP_011507671.1:p.Gly95=
XM_017000851.1:c.999T>A	XP_016856340.1:p.Gly333=
XM_017000852.1:c.1842T>A	XP_016856341.1:p.Gly614=
NM_201253.3:c.1842T>A MANE Select	NP_957705.1:p.Gly614=
NM_001193640.2:c.1506T>A	NP_001180569.1:p.Gly502=
NM_001257965.2:c.1635T>A	NP_001244894.1:p.Gly545=
NR_047563.2:n.1875-80T>A
NR_047564.2:n.2003T>A
NM_001257966.2:c.1842T>A	NP_001244895.1:p.Gly614=