Canonical Allele Identifier: CA344036998

Gene: CRB1

Linked Data

• gnomAD v4: 1-197427663-C-G
• MyVariant Identifiers: chr1:g.197396793C>G (hg19) ; chr1:g.197427663C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427663C>G , CM000663.2:g.197427663C>G	GRCh38
NC_000001.10:g.197396793C>G , CM000663.1:g.197396793C>G	GRCh37
NC_000001.9:g.195663416C>G	NCBI36
NG_008483.1:g.164386C>G
NG_008483.2:g.231202C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2338C>G MANE Select	ENSP00000356370.3:p.Pro780Ala
ENST00000638467.1:c.2338C>G	ENSP00000491102.1:p.Pro780Ala
ENST00000681519.1:c.1219C>G	ENSP00000505267.1:p.Pro407Ala
ENST00000367397.1:c.481C>G	ENSP00000356367.1:p.Pro161Ala
ENST00000367399.6:c.2002C>G	ENSP00000356369.2:p.Pro668Ala
ENST00000367400.7:c.2338C>G	ENSP00000356370.3:p.Pro780Ala
ENST00000480086.2:n.239C>G
ENST00000484075.5:c.2338C>G	ENSP00000433932.1:p.Pro780Ala
ENST00000535699.5:c.2131C>G	ENSP00000438786.1:p.Pro711Ala
ENST00000538660.5:c.2128+5707C>G	ENSP00000438091.1:n.2128+5707C>G
NM_001193640.1:c.2002C>G	NP_001180569.1:p.Pro668Ala
NM_001257965.1:c.2131C>G	NP_001244894.1:p.Pro711Ala
NM_001257966.1:c.2128+5707C>G	NP_001244895.1:n.2128+5707C>G
NM_201253.2:c.2338C>G	NP_957705.1:p.Pro780Ala
NR_047563.1:n.2339C>G
NR_047564.1:n.2547C>G
XM_011509365.1:c.2338C>G	XP_011507667.1:p.Pro780Ala
XM_011509366.1:c.2338C>G	XP_011507668.1:p.Pro780Ala
XM_011509367.1:c.2338C>G	XP_011507669.1:p.Pro780Ala
XM_011509368.1:c.1756C>G	XP_011507670.1:p.Pro586Ala
XM_011509369.1:c.781C>G	XP_011507671.1:p.Pro261Ala
XM_011509365.2:c.2338C>G	XP_011507667.1:p.Pro780Ala
XM_011509369.2:c.781C>G	XP_011507671.1:p.Pro261Ala
XM_017000851.1:c.1495C>G	XP_016856340.1:p.Pro499Ala
XM_017000852.1:c.2338C>G	XP_016856341.1:p.Pro780Ala
NM_201253.3:c.2338C>G MANE Select	NP_957705.1:p.Pro780Ala
NM_001193640.2:c.2002C>G	NP_001180569.1:p.Pro668Ala
NM_001257965.2:c.2131C>G	NP_001244894.1:p.Pro711Ala
NR_047563.2:n.2291C>G
NR_047564.2:n.2499C>G
NM_001257966.2:c.2128+5707C>G	NP_001244895.1:n.2128+5707C>G