Canonical Allele Identifier: CA422808585

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1151412
• ClinVar RCV Id: RCV001492353
• dbSNP Id: rs917245598
• gnomAD v4: 1-197421703-T-G
• MyVariant Identifiers: chr1:g.197390833T>G (hg19) ; chr1:g.197421703T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421703T>G , CM000663.2:g.197421703T>G	GRCh38
NC_000001.10:g.197390833T>G , CM000663.1:g.197390833T>G	GRCh37
NC_000001.9:g.195657456T>G	NCBI36
NG_008483.1:g.158426T>G
NG_008483.2:g.225242T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1875T>G MANE Select	ENSP00000356370.3:p.Val625=
ENST00000638467.1:c.1875T>G	ENSP00000491102.1:p.Val625=
ENST00000681519.1:c.756T>G	ENSP00000505267.1:p.Val252=
ENST00000367397.1:c.18T>G	ENSP00000356367.1:p.Val6=
ENST00000367399.6:c.1539T>G	ENSP00000356369.2:p.Val513=
ENST00000367400.7:c.1875T>G	ENSP00000356370.3:p.Val625=
ENST00000484075.5:c.1875T>G	ENSP00000433932.1:p.Val625=
ENST00000535699.5:c.1668T>G	ENSP00000438786.1:p.Val556=
ENST00000538660.5:c.1875T>G	ENSP00000438091.1:p.Val625=
NM_001193640.1:c.1539T>G	NP_001180569.1:p.Val513=
NM_001257965.1:c.1668T>G	NP_001244894.1:p.Val556=
NM_001257966.1:c.1875T>G	NP_001244895.1:p.Val625=
NM_201253.2:c.1875T>G	NP_957705.1:p.Val625=
NR_047563.1:n.1923-47T>G
NR_047564.1:n.2084T>G
XM_011509365.1:c.1875T>G	XP_011507667.1:p.Val625=
XM_011509366.1:c.1875T>G	XP_011507668.1:p.Val625=
XM_011509367.1:c.1875T>G	XP_011507669.1:p.Val625=
XM_011509368.1:c.1293T>G	XP_011507670.1:p.Val431=
XM_011509369.1:c.318T>G	XP_011507671.1:p.Val106=
XM_011509365.2:c.1875T>G	XP_011507667.1:p.Val625=
XM_011509369.2:c.318T>G	XP_011507671.1:p.Val106=
XM_017000851.1:c.1032T>G	XP_016856340.1:p.Val344=
XM_017000852.1:c.1875T>G	XP_016856341.1:p.Val625=
NM_201253.3:c.1875T>G MANE Select	NP_957705.1:p.Val625=
NM_001193640.2:c.1539T>G	NP_001180569.1:p.Val513=
NM_001257965.2:c.1668T>G	NP_001244894.1:p.Val556=
NR_047563.2:n.1875-47T>G
NR_047564.2:n.2036T>G
NM_001257966.2:c.1875T>G	NP_001244895.1:p.Val625=