Canonical Allele Identifier: CA422808283

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390527A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421397A>C , CM000663.2:g.197421397A>C	GRCh38
NC_000001.10:g.197390527A>C , CM000663.1:g.197390527A>C	GRCh37
NC_000001.9:g.195657150A>C	NCBI36
NG_008483.1:g.158120A>C
NG_008483.2:g.224936A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1569A>C MANE Select	ENSP00000356370.3:p.Leu523=
ENST00000638467.1:c.1569A>C	ENSP00000491102.1:p.Leu523=
ENST00000681519.1:c.450A>C	ENSP00000505267.1:p.Leu150=
ENST00000367397.1:c.-289A>C	ENSP00000356367.1:n.-289A>C
ENST00000367399.6:c.1233A>C	ENSP00000356369.2:p.Leu411=
ENST00000367400.7:c.1569A>C	ENSP00000356370.3:p.Leu523=
ENST00000476483.1:n.529A>C
ENST00000484075.5:c.1569A>C	ENSP00000433932.1:p.Leu523=
ENST00000535699.5:c.1362A>C	ENSP00000438786.1:p.Leu454=
ENST00000538660.5:c.1569A>C	ENSP00000438091.1:p.Leu523=
NM_001193640.1:c.1233A>C	NP_001180569.1:p.Leu411=
NM_001257965.1:c.1362A>C	NP_001244894.1:p.Leu454=
NM_001257966.1:c.1569A>C	NP_001244895.1:p.Leu523=
NM_201253.2:c.1569A>C	NP_957705.1:p.Leu523=
NR_047563.1:n.1778A>C
NR_047564.1:n.1778A>C
XM_011509365.1:c.1569A>C	XP_011507667.1:p.Leu523=
XM_011509366.1:c.1569A>C	XP_011507668.1:p.Leu523=
XM_011509367.1:c.1569A>C	XP_011507669.1:p.Leu523=
XM_011509368.1:c.987A>C	XP_011507670.1:p.Leu329=
XM_011509369.1:c.12A>C	XP_011507671.1:p.Leu4=
XM_011509365.2:c.1569A>C	XP_011507667.1:p.Leu523=
XM_011509369.2:c.12A>C	XP_011507671.1:p.Leu4=
XM_017000851.1:c.726A>C	XP_016856340.1:p.Leu242=
XM_017000852.1:c.1569A>C	XP_016856341.1:p.Leu523=
NM_201253.3:c.1569A>C MANE Select	NP_957705.1:p.Leu523=
NM_001193640.2:c.1233A>C	NP_001180569.1:p.Leu411=
NM_001257965.2:c.1362A>C	NP_001244894.1:p.Leu454=
NR_047563.2:n.1730A>C
NR_047564.2:n.1730A>C
NM_001257966.2:c.1569A>C	NP_001244895.1:p.Leu523=