Canonical Allele Identifier: CA344035523

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446855T>C (hg19) ; chr1:g.197477725T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477725T>C , CM000663.2:g.197477725T>C	GRCh38
NC_000001.10:g.197446855T>C , CM000663.1:g.197446855T>C	GRCh37
NC_000001.9:g.195713478T>C	NCBI36
NG_008483.1:g.214448T>C
NG_008483.2:g.281264T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.4067T>C MANE Select	ENSP00000356370.3:p.Leu1356Ser
ENST00000367399.6:c.3731T>C	ENSP00000356369.2:p.Leu1244Ser
ENST00000367400.7:c.4067T>C	ENSP00000356370.3:p.Leu1356Ser
ENST00000448952.1:c.301T>C	ENSP00000395407.1:n.301T>C
ENST00000484075.5:c.*178T>C	ENSP00000433932.1:n.*178T>C
ENST00000535699.5:c.3995T>C	ENSP00000438786.1:p.Leu1332Ser
ENST00000538660.5:c.2459T>C	ENSP00000438091.1:p.Leu820Ser
NM_001193640.1:c.3731T>C	NP_001180569.1:p.Leu1244Ser
NM_001257965.1:c.3995T>C	NP_001244894.1:p.Leu1332Ser
NM_001257966.1:c.2459T>C	NP_001244895.1:p.Leu820Ser
NM_201253.2:c.4067T>C	NP_957705.1:p.Leu1356Ser
NR_047563.1:n.4068T>C
NR_047564.1:n.4518T>C
XM_011509366.1:c.*172T>C	XP_011507668.1:n.*172T>C
XM_011509367.1:c.*46T>C	XP_011507669.1:n.*46T>C
XM_011509368.1:c.3485T>C	XP_011507670.1:p.Leu1162Ser
XM_011509369.1:c.2510T>C	XP_011507671.1:p.Leu837Ser
XM_011509369.2:c.2510T>C	XP_011507671.1:p.Leu837Ser
XM_017000851.1:c.3224T>C	XP_016856340.1:p.Leu1075Ser
XM_017000852.1:c.4202T>C	XP_016856341.1:p.Leu1401Ser
NM_201253.3:c.4067T>C MANE Select	NP_957705.1:p.Leu1356Ser
NM_001193640.2:c.3731T>C	NP_001180569.1:p.Leu1244Ser
NM_001257965.2:c.3995T>C	NP_001244894.1:p.Leu1332Ser
NR_047563.2:n.4020T>C
NR_047564.2:n.4470T>C
NM_001257966.2:c.2459T>C	NP_001244895.1:p.Leu820Ser