Canonical Allele Identifier: CA1312037

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421971A>C , CM000663.2:g.197421971A>C	GRCh38
NC_000001.10:g.197391101A>C , CM000663.1:g.197391101A>C	GRCh37
NC_000001.9:g.195657724A>C	NCBI36
NG_008483.1:g.158694A>C
NG_008483.2:g.225510A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2128+15A>C MANE Select	ENSP00000356370.3:n.2128+15A>C
ENST00000638467.1:c.2128+15A>C	ENSP00000491102.1:n.2128+15A>C
ENST00000681519.1:c.1009+15A>C	ENSP00000505267.1:n.1009+15A>C
ENST00000367397.1:c.271+15A>C	ENSP00000356367.1:n.271+15A>C
ENST00000367399.6:c.1792+15A>C	ENSP00000356369.2:n.1792+15A>C
ENST00000367400.7:c.2128+15A>C	ENSP00000356370.3:n.2128+15A>C
ENST00000484075.5:c.2128+15A>C	ENSP00000433932.1:n.2128+15A>C
ENST00000535699.5:c.1921+15A>C	ENSP00000438786.1:n.1921+15A>C
ENST00000538660.5:c.2128+15A>C	ENSP00000438091.1:n.2128+15A>C
NM_001193640.1:c.1792+15A>C	NP_001180569.1:n.1792+15A>C
NM_001257965.1:c.1921+15A>C	NP_001244894.1:n.1921+15A>C
NM_001257966.1:c.2128+15A>C	NP_001244895.1:n.2128+15A>C
NM_201253.2:c.2128+15A>C	NP_957705.1:n.2128+15A>C
NR_047563.1:n.2129+15A>C
NR_047564.1:n.2337+15A>C
XM_011509365.1:c.2128+15A>C	XP_011507667.1:n.2128+15A>C
XM_011509366.1:c.2128+15A>C	XP_011507668.1:n.2128+15A>C
XM_011509367.1:c.2128+15A>C	XP_011507669.1:n.2128+15A>C
XM_011509368.1:c.1546+15A>C	XP_011507670.1:n.1546+15A>C
XM_011509369.1:c.571+15A>C	XP_011507671.1:n.571+15A>C
XM_011509365.2:c.2128+15A>C	XP_011507667.1:n.2128+15A>C
XM_011509369.2:c.571+15A>C	XP_011507671.1:n.571+15A>C
XM_017000851.1:c.1285+15A>C	XP_016856340.1:n.1285+15A>C
XM_017000852.1:c.2128+15A>C	XP_016856341.1:n.2128+15A>C
NM_201253.3:c.2128+15A>C MANE Select	NP_957705.1:n.2128+15A>C
NM_001193640.2:c.1792+15A>C	NP_001180569.1:n.1792+15A>C
NM_001257965.2:c.1921+15A>C	NP_001244894.1:n.1921+15A>C
NR_047563.2:n.2081+15A>C
NR_047564.2:n.2289+15A>C
NM_001257966.2:c.2128+15A>C	NP_001244895.1:n.2128+15A>C