Canonical Allele Identifier: CA344035518

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446853G>C (hg19) ; chr1:g.197477723G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477723G>C , CM000663.2:g.197477723G>C	GRCh38
NC_000001.10:g.197446853G>C , CM000663.1:g.197446853G>C	GRCh37
NC_000001.9:g.195713476G>C	NCBI36
NG_008483.1:g.214446G>C
NG_008483.2:g.281262G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4065G>C MANE Select	ENSP00000356370.3:p.Leu1355Phe
ENST00000367399.6:c.3729G>C	ENSP00000356369.2:p.Leu1243Phe
ENST00000367400.7:c.4065G>C	ENSP00000356370.3:p.Leu1355Phe
ENST00000448952.1:c.299G>C	ENSP00000395407.1:n.299G>C
ENST00000484075.5:c.*176G>C	ENSP00000433932.1:n.*176G>C
ENST00000535699.5:c.3993G>C	ENSP00000438786.1:p.Leu1331Phe
ENST00000538660.5:c.2457G>C	ENSP00000438091.1:p.Leu819Phe
NM_001193640.1:c.3729G>C	NP_001180569.1:p.Leu1243Phe
NM_001257965.1:c.3993G>C	NP_001244894.1:p.Leu1331Phe
NM_001257966.1:c.2457G>C	NP_001244895.1:p.Leu819Phe
NM_201253.2:c.4065G>C	NP_957705.1:p.Leu1355Phe
NR_047563.1:n.4066G>C
NR_047564.1:n.4516G>C
XM_011509366.1:c.*170G>C	XP_011507668.1:n.*170G>C
XM_011509367.1:c.*44G>C	XP_011507669.1:n.*44G>C
XM_011509368.1:c.3483G>C	XP_011507670.1:p.Leu1161Phe
XM_011509369.1:c.2508G>C	XP_011507671.1:p.Leu836Phe
XM_011509369.2:c.2508G>C	XP_011507671.1:p.Leu836Phe
XM_017000851.1:c.3222G>C	XP_016856340.1:p.Leu1074Phe
XM_017000852.1:c.4200G>C	XP_016856341.1:p.Leu1400Phe
NM_201253.3:c.4065G>C MANE Select	NP_957705.1:p.Leu1355Phe
NM_001193640.2:c.3729G>C	NP_001180569.1:p.Leu1243Phe
NM_001257965.2:c.3993G>C	NP_001244894.1:p.Leu1331Phe
NR_047563.2:n.4018G>C
NR_047564.2:n.4468G>C
NM_001257966.2:c.2457G>C	NP_001244895.1:p.Leu819Phe