Canonical Allele Identifier: CA344041413

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429616T>C , CM000663.2:g.197429616T>C	GRCh38
NC_000001.10:g.197398746T>C , CM000663.1:g.197398746T>C	GRCh37
NC_000001.9:g.195665369T>C	NCBI36
NG_008483.1:g.166339T>C
NG_008483.2:g.233155T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2842+2T>C MANE Select	NP_957705.1:n.2842+2T>C
ENST00000367400.8:c.2842+2T>C MANE Select	ENSP00000356370.3:n.2842+2T>C
NM_001193640.1:c.2506+2T>C	NP_001180569.1:n.2506+2T>C
NM_001193640.2:c.2506+2T>C	NP_001180569.1:n.2506+2T>C
NM_001257965.1:c.2770+2T>C	NP_001244894.1:n.2770+2T>C
NM_001257965.2:c.2770+2T>C	NP_001244894.1:n.2770+2T>C
NM_001257966.1:c.2129-5984T>C	NP_001244895.1:n.2129-5984T>C
NM_001257966.2:c.2129-5984T>C	NP_001244895.1:n.2129-5984T>C
NM_201253.2:c.2842+2T>C	NP_957705.1:n.2842+2T>C
NR_047563.1:n.2843+2T>C
NR_047563.2:n.2795+2T>C
NR_047564.1:n.3051+2T>C
NR_047564.2:n.3003+2T>C
ENST00000367397.1:c.985+2T>C	ENSP00000356367.1:n.985+2T>C
ENST00000367399.6:c.2506+2T>C	ENSP00000356369.2:n.2506+2T>C
ENST00000367400.7:c.2842+2T>C	ENSP00000356370.3:n.2842+2T>C
ENST00000484075.5:c.2842+2T>C	ENSP00000433932.1:n.2842+2T>C
ENST00000535699.5:c.2770+2T>C	ENSP00000438786.1:n.2770+2T>C
ENST00000538660.5:c.2129-5984T>C	ENSP00000438091.1:n.2129-5984T>C
ENST00000638467.1:c.2842+2T>C	ENSP00000491102.1:n.2842+2T>C
ENST00000681519.1:c.1723+2T>C	ENSP00000505267.1:n.1723+2T>C
XM_011509365.1:c.2842+2T>C	XP_011507667.1:n.2842+2T>C
XM_011509365.2:c.2842+2T>C	XP_011507667.1:n.2842+2T>C
XM_011509366.1:c.2842+2T>C	XP_011507668.1:n.2842+2T>C
XM_011509367.1:c.2842+2T>C	XP_011507669.1:n.2842+2T>C
XM_011509368.1:c.2260+2T>C	XP_011507670.1:n.2260+2T>C
XM_011509369.1:c.1285+2T>C	XP_011507671.1:n.1285+2T>C
XM_011509369.2:c.1285+2T>C	XP_011507671.1:n.1285+2T>C
XM_017000851.1:c.1999+2T>C	XP_016856340.1:n.1999+2T>C
XM_017000852.1:c.2977+2T>C	XP_016856341.1:n.2977+2T>C