Canonical Allele Identifier: CA1312271

Gene: CRB1

Linked Data

• dbSNP Id: rs766316268
• ExAC: 1:197404080 G / A
• gnomAD v2: 1-197404080-G-A
• gnomAD v4: 1-197434950-G-A
• MyVariant Identifiers: chr1:g.197404080G>A (hg19) ; chr1:g.197434950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434950G>A , CM000663.2:g.197434950G>A	GRCh38
NC_000001.10:g.197404080G>A , CM000663.1:g.197404080G>A	GRCh37
NC_000001.9:g.195670703G>A	NCBI36
NG_008483.1:g.171673G>A
NG_008483.2:g.238489G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3087G>A MANE Select	ENSP00000356370.3:p.Val1029=
ENST00000638467.1:c.3087G>A	ENSP00000491102.1:p.Val1029=
ENST00000681519.1:c.1968G>A	ENSP00000505267.1:p.Val656=
ENST00000367397.1:c.1230G>A	ENSP00000356367.1:p.Val410=
ENST00000367399.6:c.2751G>A	ENSP00000356369.2:p.Val917=
ENST00000367400.7:c.3087G>A	ENSP00000356370.3:p.Val1029=
ENST00000484075.5:c.3087G>A	ENSP00000433932.1:p.Val1029=
ENST00000535699.5:c.3015G>A	ENSP00000438786.1:p.Val1005=
ENST00000538660.5:c.2129-650G>A	ENSP00000438091.1:n.2129-650G>A
NM_001193640.1:c.2751G>A	NP_001180569.1:p.Val917=
NM_001257965.1:c.3015G>A	NP_001244894.1:p.Val1005=
NM_001257966.1:c.2129-650G>A	NP_001244895.1:n.2129-650G>A
NM_201253.2:c.3087G>A	NP_957705.1:p.Val1029=
NR_047563.1:n.3088G>A
NR_047564.1:n.3296G>A
XM_011509365.1:c.3087G>A	XP_011507667.1:p.Val1029=
XM_011509366.1:c.3087G>A	XP_011507668.1:p.Val1029=
XM_011509367.1:c.3087G>A	XP_011507669.1:p.Val1029=
XM_011509368.1:c.2505G>A	XP_011507670.1:p.Val835=
XM_011509369.1:c.1530G>A	XP_011507671.1:p.Val510=
XM_011509365.2:c.3087G>A	XP_011507667.1:p.Val1029=
XM_011509369.2:c.1530G>A	XP_011507671.1:p.Val510=
XM_017000851.1:c.2244G>A	XP_016856340.1:p.Val748=
XM_017000852.1:c.3222G>A	XP_016856341.1:p.Val1074=
NM_201253.3:c.3087G>A MANE Select	NP_957705.1:p.Val1029=
NM_001193640.2:c.2751G>A	NP_001180569.1:p.Val917=
NM_001257965.2:c.3015G>A	NP_001244894.1:p.Val1005=
NR_047563.2:n.3040G>A
NR_047564.2:n.3248G>A
NM_001257966.2:c.2129-650G>A	NP_001244895.1:n.2129-650G>A