Canonical Allele Identifier: CA344052515

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197442201C>G , CM000663.2:g.197442201C>G	GRCh38
NC_000001.10:g.197411331C>G , CM000663.1:g.197411331C>G	GRCh37
NC_000001.9:g.195677954C>G	NCBI36
NG_008483.1:g.178924C>G
NG_008483.2:g.245740C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3914C>G MANE Select	NP_957705.1:p.Pro1305Arg
ENST00000367400.8:c.3914C>G MANE Select	ENSP00000356370.3:p.Pro1305Arg
NM_001193640.1:c.3578C>G	NP_001180569.1:p.Pro1193Arg
NM_001193640.2:c.3578C>G	NP_001180569.1:p.Pro1193Arg
NM_001257965.1:c.3842C>G	NP_001244894.1:p.Pro1281Arg
NM_001257965.2:c.3842C>G	NP_001244894.1:p.Pro1281Arg
NM_001257966.1:c.2306C>G	NP_001244895.1:p.Pro769Arg
NM_001257966.2:c.2306C>G	NP_001244895.1:p.Pro769Arg
NM_201253.2:c.3914C>G	NP_957705.1:p.Pro1305Arg
NR_047563.1:n.3915C>G
NR_047563.2:n.3867C>G
NR_047564.1:n.4123C>G
NR_047564.2:n.4075C>G
ENST00000367397.1:c.*3522C>G	ENSP00000356367.1:n.*3522C>G
ENST00000367399.6:c.3578C>G	ENSP00000356369.2:p.Pro1193Arg
ENST00000367400.7:c.3914C>G	ENSP00000356370.3:p.Pro1305Arg
ENST00000448952.1:c.32C>G	ENSP00000395407.1:p.Pro11Arg
ENST00000484075.5:c.3914C>G	ENSP00000433932.1:p.Pro1305Arg
ENST00000535699.5:c.3842C>G	ENSP00000438786.1:p.Pro1281Arg
ENST00000538660.5:c.2306C>G	ENSP00000438091.1:p.Pro769Arg
ENST00000638467.1:c.3914C>G	ENSP00000491102.1:p.Pro1305Arg
ENST00000681519.1:c.2795C>G	ENSP00000505267.1:p.Pro932Arg
XM_011509365.1:c.3914C>G	XP_011507667.1:p.Pro1305Arg
XM_011509365.2:c.3914C>G	XP_011507667.1:p.Pro1305Arg
XM_011509366.1:c.3914C>G	XP_011507668.1:p.Pro1305Arg
XM_011509367.1:c.3878+3526C>G	XP_011507669.1:n.3878+3526C>G
XM_011509368.1:c.3332C>G	XP_011507670.1:p.Pro1111Arg
XM_011509369.1:c.2357C>G	XP_011507671.1:p.Pro786Arg
XM_011509369.2:c.2357C>G	XP_011507671.1:p.Pro786Arg
XM_017000851.1:c.3071C>G	XP_016856340.1:p.Pro1024Arg
XM_017000852.1:c.4049C>G	XP_016856341.1:p.Pro1350Arg