Canonical Allele Identifier: CA422808663

Gene: CRB1

Linked Data

• gnomAD v4: 1-197421763-C-T
• MyVariant Identifiers: chr1:g.197390893C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421763C>T , CM000663.2:g.197421763C>T	GRCh38
NC_000001.10:g.197390893C>T , CM000663.1:g.197390893C>T	GRCh37
NC_000001.9:g.195657516C>T	NCBI36
NG_008483.1:g.158486C>T
NG_008483.2:g.225302C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1935C>T MANE Select	ENSP00000356370.3:p.Asp645=
ENST00000638467.1:c.1935C>T	ENSP00000491102.1:p.Asp645=
ENST00000681519.1:c.816C>T	ENSP00000505267.1:p.Asp272=
ENST00000367397.1:c.78C>T	ENSP00000356367.1:p.Asp26=
ENST00000367399.6:c.1599C>T	ENSP00000356369.2:p.Asp533=
ENST00000367400.7:c.1935C>T	ENSP00000356370.3:p.Asp645=
ENST00000484075.5:c.1935C>T	ENSP00000433932.1:p.Asp645=
ENST00000535699.5:c.1728C>T	ENSP00000438786.1:p.Asp576=
ENST00000538660.5:c.1935C>T	ENSP00000438091.1:p.Asp645=
NM_001193640.1:c.1599C>T	NP_001180569.1:p.Asp533=
NM_001257965.1:c.1728C>T	NP_001244894.1:p.Asp576=
NM_001257966.1:c.1935C>T	NP_001244895.1:p.Asp645=
NM_201253.2:c.1935C>T	NP_957705.1:p.Asp645=
NR_047563.1:n.1936C>T
NR_047564.1:n.2144C>T
XM_011509365.1:c.1935C>T	XP_011507667.1:p.Asp645=
XM_011509366.1:c.1935C>T	XP_011507668.1:p.Asp645=
XM_011509367.1:c.1935C>T	XP_011507669.1:p.Asp645=
XM_011509368.1:c.1353C>T	XP_011507670.1:p.Asp451=
XM_011509369.1:c.378C>T	XP_011507671.1:p.Asp126=
XM_011509365.2:c.1935C>T	XP_011507667.1:p.Asp645=
XM_011509369.2:c.378C>T	XP_011507671.1:p.Asp126=
XM_017000851.1:c.1092C>T	XP_016856340.1:p.Asp364=
XM_017000852.1:c.1935C>T	XP_016856341.1:p.Asp645=
NM_201253.3:c.1935C>T MANE Select	NP_957705.1:p.Asp645=
NM_001193640.2:c.1599C>T	NP_001180569.1:p.Asp533=
NM_001257965.2:c.1728C>T	NP_001244894.1:p.Asp576=
NR_047563.2:n.1888C>T
NR_047564.2:n.2096C>T
NM_001257966.2:c.1935C>T	NP_001244895.1:p.Asp645=