Canonical Allele Identifier: CA344035427

Gene: CRB1

Linked Data

• dbSNP Id: rs1667255975
• MyVariant Identifiers: chr1:g.197446807T>C (hg19) ; chr1:g.197477677T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477677T>C , CM000663.2:g.197477677T>C	GRCh38
NC_000001.10:g.197446807T>C , CM000663.1:g.197446807T>C	GRCh37
NC_000001.9:g.195713430T>C	NCBI36
NG_008483.1:g.214400T>C
NG_008483.2:g.281216T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4019T>C MANE Select	ENSP00000356370.3:p.Leu1340Ser
ENST00000367399.6:c.3683T>C	ENSP00000356369.2:p.Leu1228Ser
ENST00000367400.7:c.4019T>C	ENSP00000356370.3:p.Leu1340Ser
ENST00000448952.1:c.253T>C	ENSP00000395407.1:n.253T>C
ENST00000484075.5:c.*130T>C	ENSP00000433932.1:n.*130T>C
ENST00000535699.5:c.3947T>C	ENSP00000438786.1:p.Leu1316Ser
ENST00000538660.5:c.2411T>C	ENSP00000438091.1:p.Leu804Ser
NM_001193640.1:c.3683T>C	NP_001180569.1:p.Leu1228Ser
NM_001257965.1:c.3947T>C	NP_001244894.1:p.Leu1316Ser
NM_001257966.1:c.2411T>C	NP_001244895.1:p.Leu804Ser
NM_201253.2:c.4019T>C	NP_957705.1:p.Leu1340Ser
NR_047563.1:n.4020T>C
NR_047564.1:n.4470T>C
XM_011509366.1:c.*124T>C	XP_011507668.1:n.*124T>C
XM_011509367.1:c.3892T>C	XP_011507669.1:p.Ter1298Arg
XM_011509368.1:c.3437T>C	XP_011507670.1:p.Leu1146Ser
XM_011509369.1:c.2462T>C	XP_011507671.1:p.Leu821Ser
XM_011509369.2:c.2462T>C	XP_011507671.1:p.Leu821Ser
XM_017000851.1:c.3176T>C	XP_016856340.1:p.Leu1059Ser
XM_017000852.1:c.4154T>C	XP_016856341.1:p.Leu1385Ser
NM_201253.3:c.4019T>C MANE Select	NP_957705.1:p.Leu1340Ser
NM_001193640.2:c.3683T>C	NP_001180569.1:p.Leu1228Ser
NM_001257965.2:c.3947T>C	NP_001244894.1:p.Leu1316Ser
NR_047563.2:n.3972T>C
NR_047564.2:n.4422T>C
NM_001257966.2:c.2411T>C	NP_001244895.1:p.Leu804Ser