Canonical Allele Identifier: CA344052789

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197442294T>C , CM000663.2:g.197442294T>C	GRCh38
NC_000001.10:g.197411424T>C , CM000663.1:g.197411424T>C	GRCh37
NC_000001.9:g.195678047T>C	NCBI36
NG_008483.1:g.179017T>C
NG_008483.2:g.245833T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.4005+2T>C MANE Select	NP_957705.1:n.4005+2T>C
ENST00000367400.8:c.4005+2T>C MANE Select	ENSP00000356370.3:n.4005+2T>C
NM_001193640.1:c.3669+2T>C	NP_001180569.1:n.3669+2T>C
NM_001193640.2:c.3669+2T>C	NP_001180569.1:n.3669+2T>C
NM_001257965.1:c.3933+2T>C	NP_001244894.1:n.3933+2T>C
NM_001257965.2:c.3933+2T>C	NP_001244894.1:n.3933+2T>C
NM_001257966.1:c.2397+2T>C	NP_001244895.1:n.2397+2T>C
NM_001257966.2:c.2397+2T>C	NP_001244895.1:n.2397+2T>C
NM_201253.2:c.4005+2T>C	NP_957705.1:n.4005+2T>C
NR_047563.1:n.4006+2T>C
NR_047563.2:n.3958+2T>C
NR_047564.1:n.4216T>C
NR_047564.2:n.4168T>C
ENST00000367397.1:c.*3615T>C	ENSP00000356367.1:n.*3615T>C
ENST00000367399.6:c.3669+2T>C	ENSP00000356369.2:n.3669+2T>C
ENST00000367400.7:c.4005+2T>C	ENSP00000356370.3:n.4005+2T>C
ENST00000448952.1:c.123+2T>C	ENSP00000395407.1:n.123+2T>C
ENST00000484075.5:c.4007T>C	ENSP00000433932.1:p.Val1336Ala
ENST00000535699.5:c.3933+2T>C	ENSP00000438786.1:n.3933+2T>C
ENST00000538660.5:c.2397+2T>C	ENSP00000438091.1:n.2397+2T>C
ENST00000638467.1:c.4007T>C	ENSP00000491102.1:p.Val1336Ala
ENST00000681519.1:c.2888T>C	ENSP00000505267.1:p.Val963Ala
XM_011509365.1:c.4005+2T>C	XP_011507667.1:n.4005+2T>C
XM_011509365.2:c.4005+2T>C	XP_011507667.1:n.4005+2T>C
XM_011509366.1:c.4005+2T>C	XP_011507668.1:n.4005+2T>C
XM_011509367.1:c.3878+3619T>C	XP_011507669.1:n.3878+3619T>C
XM_011509368.1:c.3423+2T>C	XP_011507670.1:n.3423+2T>C
XM_011509369.1:c.2448+2T>C	XP_011507671.1:n.2448+2T>C
XM_011509369.2:c.2448+2T>C	XP_011507671.1:n.2448+2T>C
XM_017000851.1:c.3162+2T>C	XP_016856340.1:n.3162+2T>C
XM_017000852.1:c.4140+2T>C	XP_016856341.1:n.4140+2T>C