Canonical Allele Identifier: CA344036111

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197447000A>C (hg19) ; chr1:g.197477870A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477870A>C , CM000663.2:g.197477870A>C	GRCh38
NC_000001.10:g.197447000A>C , CM000663.1:g.197447000A>C	GRCh37
NC_000001.9:g.195713623A>C	NCBI36
NG_008483.1:g.214593A>C
NG_008483.2:g.281409A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4212A>C MANE Select	ENSP00000356370.3:p.Arg1404Ser
ENST00000367399.6:c.3876A>C	ENSP00000356369.2:p.Arg1292Ser
ENST00000367400.7:c.4212A>C	ENSP00000356370.3:p.Arg1404Ser
ENST00000448952.1:c.446A>C	ENSP00000395407.1:n.446A>C
ENST00000484075.5:c.*323A>C	ENSP00000433932.1:n.*323A>C
ENST00000535699.5:c.4140A>C	ENSP00000438786.1:p.Arg1380Ser
ENST00000538660.5:c.2604A>C	ENSP00000438091.1:p.Arg868Ser
NM_001193640.1:c.3876A>C	NP_001180569.1:p.Arg1292Ser
NM_001257965.1:c.4140A>C	NP_001244894.1:p.Arg1380Ser
NM_001257966.1:c.2604A>C	NP_001244895.1:p.Arg868Ser
NM_201253.2:c.4212A>C	NP_957705.1:p.Arg1404Ser
NR_047563.1:n.4213A>C
NR_047564.1:n.4663A>C
XM_011509366.1:c.*317A>C	XP_011507668.1:n.*317A>C
XM_011509367.1:c.*191A>C	XP_011507669.1:n.*191A>C
XM_011509368.1:c.3630A>C	XP_011507670.1:p.Arg1210Ser
XM_011509369.1:c.2655A>C	XP_011507671.1:p.Arg885Ser
XM_011509369.2:c.2655A>C	XP_011507671.1:p.Arg885Ser
XM_017000851.1:c.3369A>C	XP_016856340.1:p.Arg1123Ser
XM_017000852.1:c.4347A>C	XP_016856341.1:p.Arg1449Ser
NM_201253.3:c.4212A>C MANE Select	NP_957705.1:p.Arg1404Ser
NM_001193640.2:c.3876A>C	NP_001180569.1:p.Arg1292Ser
NM_001257965.2:c.4140A>C	NP_001244894.1:p.Arg1380Ser
NR_047563.2:n.4165A>C
NR_047564.2:n.4615A>C
NM_001257966.2:c.2604A>C	NP_001244895.1:p.Arg868Ser