Canonical Allele Identifier: CA344052517

Gene: CRB1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3914C>T MANE Select	NP_957705.1:p.Pro1305Leu
ENST00000367400.8:c.3914C>T MANE Select	ENSP00000356370.3:p.Pro1305Leu
NM_001193640.1:c.3578C>T	NP_001180569.1:p.Pro1193Leu
NM_001193640.2:c.3578C>T	NP_001180569.1:p.Pro1193Leu
NM_001257965.1:c.3842C>T	NP_001244894.1:p.Pro1281Leu
NM_001257965.2:c.3842C>T	NP_001244894.1:p.Pro1281Leu
NM_001257966.1:c.2306C>T	NP_001244895.1:p.Pro769Leu
NM_001257966.2:c.2306C>T	NP_001244895.1:p.Pro769Leu
NM_201253.2:c.3914C>T	NP_957705.1:p.Pro1305Leu
NR_047563.1:n.3915C>T
NR_047563.2:n.3867C>T
NR_047564.1:n.4123C>T
NR_047564.2:n.4075C>T
ENST00000367397.1:c.*3522C>T	ENSP00000356367.1:n.*3522C>T
ENST00000367399.6:c.3578C>T	ENSP00000356369.2:p.Pro1193Leu
ENST00000367400.7:c.3914C>T	ENSP00000356370.3:p.Pro1305Leu
ENST00000448952.1:c.32C>T	ENSP00000395407.1:p.Pro11Leu
ENST00000484075.5:c.3914C>T	ENSP00000433932.1:p.Pro1305Leu
ENST00000535699.5:c.3842C>T	ENSP00000438786.1:p.Pro1281Leu
ENST00000538660.5:c.2306C>T	ENSP00000438091.1:p.Pro769Leu
ENST00000638467.1:c.3914C>T	ENSP00000491102.1:p.Pro1305Leu
ENST00000681519.1:c.2795C>T	ENSP00000505267.1:p.Pro932Leu
XM_011509365.1:c.3914C>T	XP_011507667.1:p.Pro1305Leu
XM_011509365.2:c.3914C>T	XP_011507667.1:p.Pro1305Leu
XM_011509366.1:c.3914C>T	XP_011507668.1:p.Pro1305Leu
XM_011509367.1:c.3878+3526C>T	XP_011507669.1:n.3878+3526C>T
XM_011509368.1:c.3332C>T	XP_011507670.1:p.Pro1111Leu
XM_011509369.1:c.2357C>T	XP_011507671.1:p.Pro786Leu
XM_011509369.2:c.2357C>T	XP_011507671.1:p.Pro786Leu
XM_017000851.1:c.3071C>T	XP_016856340.1:p.Pro1024Leu
XM_017000852.1:c.4049C>T	XP_016856341.1:p.Pro1350Leu