Canonical Allele Identifier: CA344047022

Gene: CRB1

Linked Data

• dbSNP Id: rs1665083227
• gnomAD v3: 1-197435163-A-G
• gnomAD v4: 1-197435163-A-G
• MyVariant Identifiers: chr1:g.197404293A>G (hg19) ; chr1:g.197435163A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435163A>G , CM000663.2:g.197435163A>G	GRCh38
NC_000001.10:g.197404293A>G , CM000663.1:g.197404293A>G	GRCh37
NC_000001.9:g.195670916A>G	NCBI36
NG_008483.1:g.171886A>G
NG_008483.2:g.238702A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.3300A>G MANE Select	ENSP00000356370.3:p.Ile1100Met
ENST00000638467.1:c.3300A>G	ENSP00000491102.1:p.Ile1100Met
ENST00000681519.1:c.2181A>G	ENSP00000505267.1:p.Ile727Met
ENST00000367397.1:c.1443A>G	ENSP00000356367.1:p.Ile481Met
ENST00000367399.6:c.2964A>G	ENSP00000356369.2:p.Ile988Met
ENST00000367400.7:c.3300A>G	ENSP00000356370.3:p.Ile1100Met
ENST00000484075.5:c.3300A>G	ENSP00000433932.1:p.Ile1100Met
ENST00000535699.5:c.3228A>G	ENSP00000438786.1:p.Ile1076Met
ENST00000538660.5:c.2129-437A>G	ENSP00000438091.1:n.2129-437A>G
NM_001193640.1:c.2964A>G	NP_001180569.1:p.Ile988Met
NM_001257965.1:c.3228A>G	NP_001244894.1:p.Ile1076Met
NM_001257966.1:c.2129-437A>G	NP_001244895.1:n.2129-437A>G
NM_201253.2:c.3300A>G	NP_957705.1:p.Ile1100Met
NR_047563.1:n.3301A>G
NR_047564.1:n.3509A>G
XM_011509365.1:c.3300A>G	XP_011507667.1:p.Ile1100Met
XM_011509366.1:c.3300A>G	XP_011507668.1:p.Ile1100Met
XM_011509367.1:c.3300A>G	XP_011507669.1:p.Ile1100Met
XM_011509368.1:c.2718A>G	XP_011507670.1:p.Ile906Met
XM_011509369.1:c.1743A>G	XP_011507671.1:p.Ile581Met
XM_011509365.2:c.3300A>G	XP_011507667.1:p.Ile1100Met
XM_011509369.2:c.1743A>G	XP_011507671.1:p.Ile581Met
XM_017000851.1:c.2457A>G	XP_016856340.1:p.Ile819Met
XM_017000852.1:c.3435A>G	XP_016856341.1:p.Ile1145Met
NM_201253.3:c.3300A>G MANE Select	NP_957705.1:p.Ile1100Met
NM_001193640.2:c.2964A>G	NP_001180569.1:p.Ile988Met
NM_001257965.2:c.3228A>G	NP_001244894.1:p.Ile1076Met
NR_047563.2:n.3253A>G
NR_047564.2:n.3461A>G
NM_001257966.2:c.2129-437A>G	NP_001244895.1:n.2129-437A>G