Canonical Allele Identifier: CA344044301

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197403977A>C (hg19) ; chr1:g.197434847A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434847A>C , CM000663.2:g.197434847A>C	GRCh38
NC_000001.10:g.197403977A>C , CM000663.1:g.197403977A>C	GRCh37
NC_000001.9:g.195670600A>C	NCBI36
NG_008483.1:g.171570A>C
NG_008483.2:g.238386A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2984A>C MANE Select	ENSP00000356370.3:p.Glu995Ala
ENST00000638467.1:c.2984A>C	ENSP00000491102.1:p.Glu995Ala
ENST00000681519.1:c.1865A>C	ENSP00000505267.1:p.Glu622Ala
ENST00000367397.1:c.1127A>C	ENSP00000356367.1:p.Glu376Ala
ENST00000367399.6:c.2648A>C	ENSP00000356369.2:p.Glu883Ala
ENST00000367400.7:c.2984A>C	ENSP00000356370.3:p.Glu995Ala
ENST00000484075.5:c.2984A>C	ENSP00000433932.1:p.Glu995Ala
ENST00000535699.5:c.2912A>C	ENSP00000438786.1:p.Glu971Ala
ENST00000538660.5:c.2129-753A>C	ENSP00000438091.1:n.2129-753A>C
NM_001193640.1:c.2648A>C	NP_001180569.1:p.Glu883Ala
NM_001257965.1:c.2912A>C	NP_001244894.1:p.Glu971Ala
NM_001257966.1:c.2129-753A>C	NP_001244895.1:n.2129-753A>C
NM_201253.2:c.2984A>C	NP_957705.1:p.Glu995Ala
NR_047563.1:n.2985A>C
NR_047564.1:n.3193A>C
XM_011509365.1:c.2984A>C	XP_011507667.1:p.Glu995Ala
XM_011509366.1:c.2984A>C	XP_011507668.1:p.Glu995Ala
XM_011509367.1:c.2984A>C	XP_011507669.1:p.Glu995Ala
XM_011509368.1:c.2402A>C	XP_011507670.1:p.Glu801Ala
XM_011509369.1:c.1427A>C	XP_011507671.1:p.Glu476Ala
XM_011509365.2:c.2984A>C	XP_011507667.1:p.Glu995Ala
XM_011509369.2:c.1427A>C	XP_011507671.1:p.Glu476Ala
XM_017000851.1:c.2141A>C	XP_016856340.1:p.Glu714Ala
XM_017000852.1:c.3119A>C	XP_016856341.1:p.Glu1040Ala
NM_201253.3:c.2984A>C MANE Select	NP_957705.1:p.Glu995Ala
NM_001193640.2:c.2648A>C	NP_001180569.1:p.Glu883Ala
NM_001257965.2:c.2912A>C	NP_001244894.1:p.Glu971Ala
NR_047563.2:n.2937A>C
NR_047564.2:n.3145A>C
NM_001257966.2:c.2129-753A>C	NP_001244895.1:n.2129-753A>C