Canonical Allele Identifier: CA344044495

Gene: CRB1

Linked Data

• dbSNP Id: rs1221191804
• gnomAD v4: 1-197434873-C-G
• MyVariant Identifiers: chr1:g.197404003C>G (hg19) ; chr1:g.197434873C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434873C>G , CM000663.2:g.197434873C>G	GRCh38
NC_000001.10:g.197404003C>G , CM000663.1:g.197404003C>G	GRCh37
NC_000001.9:g.195670626C>G	NCBI36
NG_008483.1:g.171596C>G
NG_008483.2:g.238412C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3010C>G MANE Select	ENSP00000356370.3:p.Gln1004Glu
ENST00000638467.1:c.3010C>G	ENSP00000491102.1:p.Gln1004Glu
ENST00000681519.1:c.1891C>G	ENSP00000505267.1:p.Gln631Glu
ENST00000367397.1:c.1153C>G	ENSP00000356367.1:p.Gln385Glu
ENST00000367399.6:c.2674C>G	ENSP00000356369.2:p.Gln892Glu
ENST00000367400.7:c.3010C>G	ENSP00000356370.3:p.Gln1004Glu
ENST00000484075.5:c.3010C>G	ENSP00000433932.1:p.Gln1004Glu
ENST00000535699.5:c.2938C>G	ENSP00000438786.1:p.Gln980Glu
ENST00000538660.5:c.2129-727C>G	ENSP00000438091.1:n.2129-727C>G
NM_001193640.1:c.2674C>G	NP_001180569.1:p.Gln892Glu
NM_001257965.1:c.2938C>G	NP_001244894.1:p.Gln980Glu
NM_001257966.1:c.2129-727C>G	NP_001244895.1:n.2129-727C>G
NM_201253.2:c.3010C>G	NP_957705.1:p.Gln1004Glu
NR_047563.1:n.3011C>G
NR_047564.1:n.3219C>G
XM_011509365.1:c.3010C>G	XP_011507667.1:p.Gln1004Glu
XM_011509366.1:c.3010C>G	XP_011507668.1:p.Gln1004Glu
XM_011509367.1:c.3010C>G	XP_011507669.1:p.Gln1004Glu
XM_011509368.1:c.2428C>G	XP_011507670.1:p.Gln810Glu
XM_011509369.1:c.1453C>G	XP_011507671.1:p.Gln485Glu
XM_011509365.2:c.3010C>G	XP_011507667.1:p.Gln1004Glu
XM_011509369.2:c.1453C>G	XP_011507671.1:p.Gln485Glu
XM_017000851.1:c.2167C>G	XP_016856340.1:p.Gln723Glu
XM_017000852.1:c.3145C>G	XP_016856341.1:p.Gln1049Glu
NM_201253.3:c.3010C>G MANE Select	NP_957705.1:p.Gln1004Glu
NM_001193640.2:c.2674C>G	NP_001180569.1:p.Gln892Glu
NM_001257965.2:c.2938C>G	NP_001244894.1:p.Gln980Glu
NR_047563.2:n.2963C>G
NR_047564.2:n.3171C>G
NM_001257966.2:c.2129-727C>G	NP_001244895.1:n.2129-727C>G