Canonical Allele Identifier: CA344032814

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1989581
• ClinVar RCV Id: RCV002795741
• dbSNP Id: rs1280443561
• gnomAD v2: 1-197390837-C-G
• gnomAD v3: 1-197421707-C-G
• gnomAD v4: 1-197421707-C-G
• MyVariant Identifiers: chr1:g.197390837C>G (hg19) ; chr1:g.197421707C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421707C>G , CM000663.2:g.197421707C>G	GRCh38
NC_000001.10:g.197390837C>G , CM000663.1:g.197390837C>G	GRCh37
NC_000001.9:g.195657460C>G	NCBI36
NG_008483.1:g.158430C>G
NG_008483.2:g.225246C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1879C>G MANE Select	ENSP00000356370.3:p.Leu627Val
ENST00000638467.1:c.1879C>G	ENSP00000491102.1:p.Leu627Val
ENST00000681519.1:c.760C>G	ENSP00000505267.1:p.Leu254Val
ENST00000367397.1:c.22C>G	ENSP00000356367.1:p.Leu8Val
ENST00000367399.6:c.1543C>G	ENSP00000356369.2:p.Leu515Val
ENST00000367400.7:c.1879C>G	ENSP00000356370.3:p.Leu627Val
ENST00000484075.5:c.1879C>G	ENSP00000433932.1:p.Leu627Val
ENST00000535699.5:c.1672C>G	ENSP00000438786.1:p.Leu558Val
ENST00000538660.5:c.1879C>G	ENSP00000438091.1:p.Leu627Val
NM_001193640.1:c.1543C>G	NP_001180569.1:p.Leu515Val
NM_001257965.1:c.1672C>G	NP_001244894.1:p.Leu558Val
NM_001257966.1:c.1879C>G	NP_001244895.1:p.Leu627Val
NM_201253.2:c.1879C>G	NP_957705.1:p.Leu627Val
NR_047563.1:n.1923-43C>G
NR_047564.1:n.2088C>G
XM_011509365.1:c.1879C>G	XP_011507667.1:p.Leu627Val
XM_011509366.1:c.1879C>G	XP_011507668.1:p.Leu627Val
XM_011509367.1:c.1879C>G	XP_011507669.1:p.Leu627Val
XM_011509368.1:c.1297C>G	XP_011507670.1:p.Leu433Val
XM_011509369.1:c.322C>G	XP_011507671.1:p.Leu108Val
XM_011509365.2:c.1879C>G	XP_011507667.1:p.Leu627Val
XM_011509369.2:c.322C>G	XP_011507671.1:p.Leu108Val
XM_017000851.1:c.1036C>G	XP_016856340.1:p.Leu346Val
XM_017000852.1:c.1879C>G	XP_016856341.1:p.Leu627Val
NM_201253.3:c.1879C>G MANE Select	NP_957705.1:p.Leu627Val
NM_001193640.2:c.1543C>G	NP_001180569.1:p.Leu515Val
NM_001257965.2:c.1672C>G	NP_001244894.1:p.Leu558Val
NR_047563.2:n.1875-43C>G
NR_047564.2:n.2040C>G
NM_001257966.2:c.1879C>G	NP_001244895.1:p.Leu627Val