Canonical Allele Identifier: CA344052509

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197442200C>G , CM000663.2:g.197442200C>G	GRCh38
NC_000001.10:g.197411330C>G , CM000663.1:g.197411330C>G	GRCh37
NC_000001.9:g.195677953C>G	NCBI36
NG_008483.1:g.178923C>G
NG_008483.2:g.245739C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3913C>G MANE Select	NP_957705.1:p.Pro1305Ala
ENST00000367400.8:c.3913C>G MANE Select	ENSP00000356370.3:p.Pro1305Ala
NM_001193640.1:c.3577C>G	NP_001180569.1:p.Pro1193Ala
NM_001193640.2:c.3577C>G	NP_001180569.1:p.Pro1193Ala
NM_001257965.1:c.3841C>G	NP_001244894.1:p.Pro1281Ala
NM_001257965.2:c.3841C>G	NP_001244894.1:p.Pro1281Ala
NM_001257966.1:c.2305C>G	NP_001244895.1:p.Pro769Ala
NM_001257966.2:c.2305C>G	NP_001244895.1:p.Pro769Ala
NM_201253.2:c.3913C>G	NP_957705.1:p.Pro1305Ala
NR_047563.1:n.3914C>G
NR_047563.2:n.3866C>G
NR_047564.1:n.4122C>G
NR_047564.2:n.4074C>G
ENST00000367397.1:c.*3521C>G	ENSP00000356367.1:n.*3521C>G
ENST00000367399.6:c.3577C>G	ENSP00000356369.2:p.Pro1193Ala
ENST00000367400.7:c.3913C>G	ENSP00000356370.3:p.Pro1305Ala
ENST00000448952.1:c.31C>G	ENSP00000395407.1:p.Pro11Ala
ENST00000484075.5:c.3913C>G	ENSP00000433932.1:p.Pro1305Ala
ENST00000535699.5:c.3841C>G	ENSP00000438786.1:p.Pro1281Ala
ENST00000538660.5:c.2305C>G	ENSP00000438091.1:p.Pro769Ala
ENST00000638467.1:c.3913C>G	ENSP00000491102.1:p.Pro1305Ala
ENST00000681519.1:c.2794C>G	ENSP00000505267.1:p.Pro932Ala
XM_011509365.1:c.3913C>G	XP_011507667.1:p.Pro1305Ala
XM_011509365.2:c.3913C>G	XP_011507667.1:p.Pro1305Ala
XM_011509366.1:c.3913C>G	XP_011507668.1:p.Pro1305Ala
XM_011509367.1:c.3878+3525C>G	XP_011507669.1:n.3878+3525C>G
XM_011509368.1:c.3331C>G	XP_011507670.1:p.Pro1111Ala
XM_011509369.1:c.2356C>G	XP_011507671.1:p.Pro786Ala
XM_011509369.2:c.2356C>G	XP_011507671.1:p.Pro786Ala
XM_017000851.1:c.3070C>G	XP_016856340.1:p.Pro1024Ala
XM_017000852.1:c.4048C>G	XP_016856341.1:p.Pro1350Ala