Canonical Allele Identifier: CA344047618

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2028789
• ClinVar RCV Id: RCV002876315
• dbSNP Id: rs1166940272
• gnomAD v2: 1-197404399-G-A
• gnomAD v3: 1-197435269-G-A
• gnomAD v4: 1-197435269-G-A
• MyVariant Identifiers: chr1:g.197404399G>A (hg19) ; chr1:g.197435269G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435269G>A , CM000663.2:g.197435269G>A	GRCh38
NC_000001.10:g.197404399G>A , CM000663.1:g.197404399G>A	GRCh37
NC_000001.9:g.195671022G>A	NCBI36
NG_008483.1:g.171992G>A
NG_008483.2:g.238808G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3406G>A MANE Select	ENSP00000356370.3:p.Gly1136Ser
ENST00000638467.1:c.3406G>A	ENSP00000491102.1:p.Gly1136Ser
ENST00000681519.1:c.2287G>A	ENSP00000505267.1:p.Gly763Ser
ENST00000367397.1:c.1549G>A	ENSP00000356367.1:p.Gly517Ser
ENST00000367399.6:c.3070G>A	ENSP00000356369.2:p.Gly1024Ser
ENST00000367400.7:c.3406G>A	ENSP00000356370.3:p.Gly1136Ser
ENST00000484075.5:c.3406G>A	ENSP00000433932.1:p.Gly1136Ser
ENST00000535699.5:c.3334G>A	ENSP00000438786.1:p.Gly1112Ser
ENST00000538660.5:c.2129-331G>A	ENSP00000438091.1:n.2129-331G>A
NM_001193640.1:c.3070G>A	NP_001180569.1:p.Gly1024Ser
NM_001257965.1:c.3334G>A	NP_001244894.1:p.Gly1112Ser
NM_001257966.1:c.2129-331G>A	NP_001244895.1:n.2129-331G>A
NM_201253.2:c.3406G>A	NP_957705.1:p.Gly1136Ser
NR_047563.1:n.3407G>A
NR_047564.1:n.3615G>A
XM_011509365.1:c.3406G>A	XP_011507667.1:p.Gly1136Ser
XM_011509366.1:c.3406G>A	XP_011507668.1:p.Gly1136Ser
XM_011509367.1:c.3406G>A	XP_011507669.1:p.Gly1136Ser
XM_011509368.1:c.2824G>A	XP_011507670.1:p.Gly942Ser
XM_011509369.1:c.1849G>A	XP_011507671.1:p.Gly617Ser
XM_011509365.2:c.3406G>A	XP_011507667.1:p.Gly1136Ser
XM_011509369.2:c.1849G>A	XP_011507671.1:p.Gly617Ser
XM_017000851.1:c.2563G>A	XP_016856340.1:p.Gly855Ser
XM_017000852.1:c.3541G>A	XP_016856341.1:p.Gly1181Ser
NM_201253.3:c.3406G>A MANE Select	NP_957705.1:p.Gly1136Ser
NM_001193640.2:c.3070G>A	NP_001180569.1:p.Gly1024Ser
NM_001257965.2:c.3334G>A	NP_001244894.1:p.Gly1112Ser
NR_047563.2:n.3359G>A
NR_047564.2:n.3567G>A
NM_001257966.2:c.2129-331G>A	NP_001244895.1:n.2129-331G>A