Canonical Allele Identifier: CA422808566

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390440G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421310G>C , CM000663.2:g.197421310G>C	GRCh38
NC_000001.10:g.197390440G>C , CM000663.1:g.197390440G>C	GRCh37
NC_000001.9:g.195657063G>C	NCBI36
NG_008483.1:g.158033G>C
NG_008483.2:g.224849G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1482G>C MANE Select	ENSP00000356370.3:p.Leu494=
ENST00000638467.1:c.1482G>C	ENSP00000491102.1:p.Leu494=
ENST00000681519.1:c.363G>C	ENSP00000505267.1:p.Leu121=
ENST00000367397.1:c.-376G>C	ENSP00000356367.1:n.-376G>C
ENST00000367399.6:c.1146G>C	ENSP00000356369.2:p.Leu382=
ENST00000367400.7:c.1482G>C	ENSP00000356370.3:p.Leu494=
ENST00000476483.1:n.442G>C
ENST00000484075.5:c.1482G>C	ENSP00000433932.1:p.Leu494=
ENST00000535699.5:c.1275G>C	ENSP00000438786.1:p.Leu425=
ENST00000538660.5:c.1482G>C	ENSP00000438091.1:p.Leu494=
NM_001193640.1:c.1146G>C	NP_001180569.1:p.Leu382=
NM_001257965.1:c.1275G>C	NP_001244894.1:p.Leu425=
NM_001257966.1:c.1482G>C	NP_001244895.1:p.Leu494=
NM_201253.2:c.1482G>C	NP_957705.1:p.Leu494=
NR_047563.1:n.1691G>C
NR_047564.1:n.1691G>C
XM_011509365.1:c.1482G>C	XP_011507667.1:p.Leu494=
XM_011509366.1:c.1482G>C	XP_011507668.1:p.Leu494=
XM_011509367.1:c.1482G>C	XP_011507669.1:p.Leu494=
XM_011509368.1:c.900G>C	XP_011507670.1:p.Leu300=
XM_011509369.1:c.-76G>C	XP_011507671.1:n.-76G>C
XM_011509365.2:c.1482G>C	XP_011507667.1:p.Leu494=
XM_011509369.2:c.-76G>C	XP_011507671.1:n.-76G>C
XM_017000851.1:c.639G>C	XP_016856340.1:p.Leu213=
XM_017000852.1:c.1482G>C	XP_016856341.1:p.Leu494=
NM_201253.3:c.1482G>C MANE Select	NP_957705.1:p.Leu494=
NM_001193640.2:c.1146G>C	NP_001180569.1:p.Leu382=
NM_001257965.2:c.1275G>C	NP_001244894.1:p.Leu425=
NR_047563.2:n.1643G>C
NR_047564.2:n.1643G>C
NM_001257966.2:c.1482G>C	NP_001244895.1:p.Leu494=