Canonical Allele Identifier: CA344032843

Gene: CRB1

Linked Data

• ClinVar Variation Id: 636015
• ClinVar RCV Id: RCV000787575 ; RCV000795927 ; RCV001830677 ; RCV001766622 ; RCV001250596
• dbSNP Id: rs1271816211
• gnomAD v2: 1-197390850-A-G
• gnomAD v3: 1-197421720-A-G
• gnomAD v4: 1-197421720-A-G
• MyVariant Identifiers: chr1:g.197390850A>G (hg19) ; chr1:g.197421720A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421720A>G , CM000663.2:g.197421720A>G	GRCh38
NC_000001.10:g.197390850A>G , CM000663.1:g.197390850A>G	GRCh37
NC_000001.9:g.195657473A>G	NCBI36
NG_008483.1:g.158443A>G
NG_008483.2:g.225259A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1892A>G MANE Select	ENSP00000356370.3:p.Tyr631Cys
ENST00000638467.1:c.1892A>G	ENSP00000491102.1:p.Tyr631Cys
ENST00000681519.1:c.773A>G	ENSP00000505267.1:p.Tyr258Cys
ENST00000367397.1:c.35A>G	ENSP00000356367.1:p.Tyr12Cys
ENST00000367399.6:c.1556A>G	ENSP00000356369.2:p.Tyr519Cys
ENST00000367400.7:c.1892A>G	ENSP00000356370.3:p.Tyr631Cys
ENST00000484075.5:c.1892A>G	ENSP00000433932.1:p.Tyr631Cys
ENST00000535699.5:c.1685A>G	ENSP00000438786.1:p.Tyr562Cys
ENST00000538660.5:c.1892A>G	ENSP00000438091.1:p.Tyr631Cys
NM_001193640.1:c.1556A>G	NP_001180569.1:p.Tyr519Cys
NM_001257965.1:c.1685A>G	NP_001244894.1:p.Tyr562Cys
NM_001257966.1:c.1892A>G	NP_001244895.1:p.Tyr631Cys
NM_201253.2:c.1892A>G	NP_957705.1:p.Tyr631Cys
NR_047563.1:n.1923-30A>G
NR_047564.1:n.2101A>G
XM_011509365.1:c.1892A>G	XP_011507667.1:p.Tyr631Cys
XM_011509366.1:c.1892A>G	XP_011507668.1:p.Tyr631Cys
XM_011509367.1:c.1892A>G	XP_011507669.1:p.Tyr631Cys
XM_011509368.1:c.1310A>G	XP_011507670.1:p.Tyr437Cys
XM_011509369.1:c.335A>G	XP_011507671.1:p.Tyr112Cys
XM_011509365.2:c.1892A>G	XP_011507667.1:p.Tyr631Cys
XM_011509369.2:c.335A>G	XP_011507671.1:p.Tyr112Cys
XM_017000851.1:c.1049A>G	XP_016856340.1:p.Tyr350Cys
XM_017000852.1:c.1892A>G	XP_016856341.1:p.Tyr631Cys
NM_201253.3:c.1892A>G MANE Select	NP_957705.1:p.Tyr631Cys
NM_001193640.2:c.1556A>G	NP_001180569.1:p.Tyr519Cys
NM_001257965.2:c.1685A>G	NP_001244894.1:p.Tyr562Cys
NR_047563.2:n.1875-30A>G
NR_047564.2:n.2053A>G
NM_001257966.2:c.1892A>G	NP_001244895.1:p.Tyr631Cys