Canonical Allele Identifier: CA422808406

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390374A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421244A>C , CM000663.2:g.197421244A>C	GRCh38
NC_000001.10:g.197390374A>C , CM000663.1:g.197390374A>C	GRCh37
NC_000001.9:g.195656997A>C	NCBI36
NG_008483.1:g.157967A>C
NG_008483.2:g.224783A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1416A>C MANE Select	ENSP00000356370.3:p.Pro472=
ENST00000638467.1:c.1416A>C	ENSP00000491102.1:p.Pro472=
ENST00000681519.1:c.297A>C	ENSP00000505267.1:p.Pro99=
ENST00000367397.1:c.-442A>C	ENSP00000356367.1:n.-442A>C
ENST00000367399.6:c.1080A>C	ENSP00000356369.2:p.Pro360=
ENST00000367400.7:c.1416A>C	ENSP00000356370.3:p.Pro472=
ENST00000476483.1:n.376A>C
ENST00000484075.5:c.1416A>C	ENSP00000433932.1:p.Pro472=
ENST00000535699.5:c.1209A>C	ENSP00000438786.1:p.Pro403=
ENST00000538660.5:c.1416A>C	ENSP00000438091.1:p.Pro472=
NM_001193640.1:c.1080A>C	NP_001180569.1:p.Pro360=
NM_001257965.1:c.1209A>C	NP_001244894.1:p.Pro403=
NM_001257966.1:c.1416A>C	NP_001244895.1:p.Pro472=
NM_201253.2:c.1416A>C	NP_957705.1:p.Pro472=
NR_047563.1:n.1625A>C
NR_047564.1:n.1625A>C
XM_011509365.1:c.1416A>C	XP_011507667.1:p.Pro472=
XM_011509366.1:c.1416A>C	XP_011507668.1:p.Pro472=
XM_011509367.1:c.1416A>C	XP_011507669.1:p.Pro472=
XM_011509368.1:c.834A>C	XP_011507670.1:p.Pro278=
XM_011509369.1:c.-142A>C	XP_011507671.1:n.-142A>C
XM_011509365.2:c.1416A>C	XP_011507667.1:p.Pro472=
XM_011509369.2:c.-142A>C	XP_011507671.1:n.-142A>C
XM_017000851.1:c.573A>C	XP_016856340.1:p.Pro191=
XM_017000852.1:c.1416A>C	XP_016856341.1:p.Pro472=
NM_201253.3:c.1416A>C MANE Select	NP_957705.1:p.Pro472=
NM_001193640.2:c.1080A>C	NP_001180569.1:p.Pro360=
NM_001257965.2:c.1209A>C	NP_001244894.1:p.Pro403=
NR_047563.2:n.1577A>C
NR_047564.2:n.1577A>C
NM_001257966.2:c.1416A>C	NP_001244895.1:p.Pro472=