Canonical Allele Identifier: CA422809015

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197397086T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427956T>C , CM000663.2:g.197427956T>C	GRCh38
NC_000001.10:g.197397086T>C , CM000663.1:g.197397086T>C	GRCh37
NC_000001.9:g.195663709T>C	NCBI36
NG_008483.1:g.164679T>C
NG_008483.2:g.231495T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2631T>C MANE Select	ENSP00000356370.3:p.Val877=
ENST00000638467.1:c.2631T>C	ENSP00000491102.1:p.Val877=
ENST00000681519.1:c.1512T>C	ENSP00000505267.1:p.Val504=
ENST00000367397.1:c.774T>C	ENSP00000356367.1:p.Val258=
ENST00000367399.6:c.2295T>C	ENSP00000356369.2:p.Val765=
ENST00000367400.7:c.2631T>C	ENSP00000356370.3:p.Val877=
ENST00000484075.5:c.2631T>C	ENSP00000433932.1:p.Val877=
ENST00000535699.5:c.2424T>C	ENSP00000438786.1:p.Val808=
ENST00000538660.5:c.2128+6000T>C	ENSP00000438091.1:n.2128+6000T>C
NM_001193640.1:c.2295T>C	NP_001180569.1:p.Val765=
NM_001257965.1:c.2424T>C	NP_001244894.1:p.Val808=
NM_001257966.1:c.2128+6000T>C	NP_001244895.1:n.2128+6000T>C
NM_201253.2:c.2631T>C	NP_957705.1:p.Val877=
NR_047563.1:n.2632T>C
NR_047564.1:n.2840T>C
XM_011509365.1:c.2631T>C	XP_011507667.1:p.Val877=
XM_011509366.1:c.2631T>C	XP_011507668.1:p.Val877=
XM_011509367.1:c.2631T>C	XP_011507669.1:p.Val877=
XM_011509368.1:c.2049T>C	XP_011507670.1:p.Val683=
XM_011509369.1:c.1074T>C	XP_011507671.1:p.Val358=
XM_011509365.2:c.2631T>C	XP_011507667.1:p.Val877=
XM_011509369.2:c.1074T>C	XP_011507671.1:p.Val358=
XM_017000851.1:c.1788T>C	XP_016856340.1:p.Val596=
XM_017000852.1:c.2631T>C	XP_016856341.1:p.Val877=
NM_201253.3:c.2631T>C MANE Select	NP_957705.1:p.Val877=
NM_001193640.2:c.2295T>C	NP_001180569.1:p.Val765=
NM_001257965.2:c.2424T>C	NP_001244894.1:p.Val808=
NR_047563.2:n.2584T>C
NR_047564.2:n.2792T>C
NM_001257966.2:c.2128+6000T>C	NP_001244895.1:n.2128+6000T>C