Canonical Allele Identifier: CA1311694

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197344344G>C , CM000663.2:g.197344344G>C	GRCh38
NC_000001.10:g.197313474G>C , CM000663.1:g.197313474G>C	GRCh37
NC_000001.9:g.195580097G>C	NCBI36
NG_008483.1:g.81067G>C
NG_008483.2:g.147883G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.716G>C MANE Select	NP_957705.1:p.Cys239Ser
ENST00000367400.8:c.716G>C MANE Select	ENSP00000356370.3:p.Cys239Ser
NM_001193640.1:c.653-12487G>C	NP_001180569.1:n.653-12487G>C
NM_001193640.2:c.653-12487G>C	NP_001180569.1:n.653-12487G>C
NM_001257965.1:c.509G>C	NP_001244894.1:p.Cys170Ser
NM_001257965.2:c.509G>C	NP_001244894.1:p.Cys170Ser
NM_001257966.1:c.716G>C	NP_001244895.1:p.Cys239Ser
NM_001257966.2:c.716G>C	NP_001244895.1:p.Cys239Ser
NM_201253.2:c.716G>C	NP_957705.1:p.Cys239Ser
NR_047563.1:n.925G>C
NR_047563.2:n.877G>C
NR_047564.1:n.925G>C
NR_047564.2:n.877G>C
ENST00000367399.6:c.653-12487G>C	ENSP00000356369.2:n.653-12487G>C
ENST00000367400.7:c.716G>C	ENSP00000356370.3:p.Cys239Ser
ENST00000475659.1:n.853G>C
ENST00000484075.5:c.716G>C	ENSP00000433932.1:p.Cys239Ser
ENST00000535699.5:c.509G>C	ENSP00000438786.1:p.Cys170Ser
ENST00000538660.5:c.716G>C	ENSP00000438091.1:p.Cys239Ser
ENST00000638467.1:c.716G>C	ENSP00000491102.1:p.Cys239Ser
XM_011509365.1:c.716G>C	XP_011507667.1:p.Cys239Ser
XM_011509365.2:c.716G>C	XP_011507667.1:p.Cys239Ser
XM_011509366.1:c.716G>C	XP_011507668.1:p.Cys239Ser
XM_011509367.1:c.716G>C	XP_011507669.1:p.Cys239Ser
XM_011509368.1:c.134G>C	XP_011507670.1:p.Cys45Ser
XM_017000851.1:c.13G>C	XP_016856340.1:p.Val5Leu
XM_017000852.1:c.716G>C	XP_016856341.1:p.Cys239Ser