Canonical Allele Identifier: CA422808278

Gene: CRB1

Linked Data

• gnomAD v4: 1-197421391-T-C
• MyVariant Identifiers: chr1:g.197390521T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421391T>C , CM000663.2:g.197421391T>C	GRCh38
NC_000001.10:g.197390521T>C , CM000663.1:g.197390521T>C	GRCh37
NC_000001.9:g.195657144T>C	NCBI36
NG_008483.1:g.158114T>C
NG_008483.2:g.224930T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1563T>C MANE Select	ENSP00000356370.3:p.Ala521=
ENST00000638467.1:c.1563T>C	ENSP00000491102.1:p.Ala521=
ENST00000681519.1:c.444T>C	ENSP00000505267.1:p.Ala148=
ENST00000367397.1:c.-295T>C	ENSP00000356367.1:n.-295T>C
ENST00000367399.6:c.1227T>C	ENSP00000356369.2:p.Ala409=
ENST00000367400.7:c.1563T>C	ENSP00000356370.3:p.Ala521=
ENST00000476483.1:n.523T>C
ENST00000484075.5:c.1563T>C	ENSP00000433932.1:p.Ala521=
ENST00000535699.5:c.1356T>C	ENSP00000438786.1:p.Ala452=
ENST00000538660.5:c.1563T>C	ENSP00000438091.1:p.Ala521=
NM_001193640.1:c.1227T>C	NP_001180569.1:p.Ala409=
NM_001257965.1:c.1356T>C	NP_001244894.1:p.Ala452=
NM_001257966.1:c.1563T>C	NP_001244895.1:p.Ala521=
NM_201253.2:c.1563T>C	NP_957705.1:p.Ala521=
NR_047563.1:n.1772T>C
NR_047564.1:n.1772T>C
XM_011509365.1:c.1563T>C	XP_011507667.1:p.Ala521=
XM_011509366.1:c.1563T>C	XP_011507668.1:p.Ala521=
XM_011509367.1:c.1563T>C	XP_011507669.1:p.Ala521=
XM_011509368.1:c.981T>C	XP_011507670.1:p.Ala327=
XM_011509369.1:c.6T>C	XP_011507671.1:p.Ala2=
XM_011509365.2:c.1563T>C	XP_011507667.1:p.Ala521=
XM_011509369.2:c.6T>C	XP_011507671.1:p.Ala2=
XM_017000851.1:c.720T>C	XP_016856340.1:p.Ala240=
XM_017000852.1:c.1563T>C	XP_016856341.1:p.Ala521=
NM_201253.3:c.1563T>C MANE Select	NP_957705.1:p.Ala521=
NM_001193640.2:c.1227T>C	NP_001180569.1:p.Ala409=
NM_001257965.2:c.1356T>C	NP_001244894.1:p.Ala452=
NR_047563.2:n.1724T>C
NR_047564.2:n.1724T>C
NM_001257966.2:c.1563T>C	NP_001244895.1:p.Ala521=