Canonical Allele Identifier: CA344035878

Gene: CRB1

Linked Data

• dbSNP Id: rs1455855649
• gnomAD v2: 1-197446950-G-A
• gnomAD v4: 1-197477820-G-A
• MyVariant Identifiers: chr1:g.197446950G>A (hg19) ; chr1:g.197477820G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477820G>A , CM000663.2:g.197477820G>A	GRCh38
NC_000001.10:g.197446950G>A , CM000663.1:g.197446950G>A	GRCh37
NC_000001.9:g.195713573G>A	NCBI36
NG_008483.1:g.214543G>A
NG_008483.2:g.281359G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4162G>A MANE Select	ENSP00000356370.3:p.Gly1388Ser
ENST00000367399.6:c.3826G>A	ENSP00000356369.2:p.Gly1276Ser
ENST00000367400.7:c.4162G>A	ENSP00000356370.3:p.Gly1388Ser
ENST00000448952.1:c.396G>A	ENSP00000395407.1:n.396G>A
ENST00000484075.5:c.*273G>A	ENSP00000433932.1:n.*273G>A
ENST00000535699.5:c.4090G>A	ENSP00000438786.1:p.Gly1364Ser
ENST00000538660.5:c.2554G>A	ENSP00000438091.1:p.Gly852Ser
NM_001193640.1:c.3826G>A	NP_001180569.1:p.Gly1276Ser
NM_001257965.1:c.4090G>A	NP_001244894.1:p.Gly1364Ser
NM_001257966.1:c.2554G>A	NP_001244895.1:p.Gly852Ser
NM_201253.2:c.4162G>A	NP_957705.1:p.Gly1388Ser
NR_047563.1:n.4163G>A
NR_047564.1:n.4613G>A
XM_011509366.1:c.*267G>A	XP_011507668.1:n.*267G>A
XM_011509367.1:c.*141G>A	XP_011507669.1:n.*141G>A
XM_011509368.1:c.3580G>A	XP_011507670.1:p.Gly1194Ser
XM_011509369.1:c.2605G>A	XP_011507671.1:p.Gly869Ser
XM_011509369.2:c.2605G>A	XP_011507671.1:p.Gly869Ser
XM_017000851.1:c.3319G>A	XP_016856340.1:p.Gly1107Ser
XM_017000852.1:c.4297G>A	XP_016856341.1:p.Gly1433Ser
NM_201253.3:c.4162G>A MANE Select	NP_957705.1:p.Gly1388Ser
NM_001193640.2:c.3826G>A	NP_001180569.1:p.Gly1276Ser
NM_001257965.2:c.4090G>A	NP_001244894.1:p.Gly1364Ser
NR_047563.2:n.4115G>A
NR_047564.2:n.4565G>A
NM_001257966.2:c.2554G>A	NP_001244895.1:p.Gly852Ser