Canonical Allele Identifier: CA344038091

Gene: CRB1

Linked Data

• dbSNP Id: rs1020630434
• MyVariant Identifiers: chr1:g.197396989G>C (hg19) ; chr1:g.197427859G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427859G>C , CM000663.2:g.197427859G>C	GRCh38
NC_000001.10:g.197396989G>C , CM000663.1:g.197396989G>C	GRCh37
NC_000001.9:g.195663612G>C	NCBI36
NG_008483.1:g.164582G>C
NG_008483.2:g.231398G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2534G>C MANE Select	ENSP00000356370.3:p.Gly845Ala
ENST00000638467.1:c.2534G>C	ENSP00000491102.1:p.Gly845Ala
ENST00000681519.1:c.1415G>C	ENSP00000505267.1:p.Gly472Ala
ENST00000367397.1:c.677G>C	ENSP00000356367.1:p.Gly226Ala
ENST00000367399.6:c.2198G>C	ENSP00000356369.2:p.Gly733Ala
ENST00000367400.7:c.2534G>C	ENSP00000356370.3:p.Gly845Ala
ENST00000484075.5:c.2534G>C	ENSP00000433932.1:p.Gly845Ala
ENST00000535699.5:c.2327G>C	ENSP00000438786.1:p.Gly776Ala
ENST00000538660.5:c.2128+5903G>C	ENSP00000438091.1:n.2128+5903G>C
NM_001193640.1:c.2198G>C	NP_001180569.1:p.Gly733Ala
NM_001257965.1:c.2327G>C	NP_001244894.1:p.Gly776Ala
NM_001257966.1:c.2128+5903G>C	NP_001244895.1:n.2128+5903G>C
NM_201253.2:c.2534G>C	NP_957705.1:p.Gly845Ala
NR_047563.1:n.2535G>C
NR_047564.1:n.2743G>C
XM_011509365.1:c.2534G>C	XP_011507667.1:p.Gly845Ala
XM_011509366.1:c.2534G>C	XP_011507668.1:p.Gly845Ala
XM_011509367.1:c.2534G>C	XP_011507669.1:p.Gly845Ala
XM_011509368.1:c.1952G>C	XP_011507670.1:p.Gly651Ala
XM_011509369.1:c.977G>C	XP_011507671.1:p.Gly326Ala
XM_011509365.2:c.2534G>C	XP_011507667.1:p.Gly845Ala
XM_011509369.2:c.977G>C	XP_011507671.1:p.Gly326Ala
XM_017000851.1:c.1691G>C	XP_016856340.1:p.Gly564Ala
XM_017000852.1:c.2534G>C	XP_016856341.1:p.Gly845Ala
NM_201253.3:c.2534G>C MANE Select	NP_957705.1:p.Gly845Ala
NM_001193640.2:c.2198G>C	NP_001180569.1:p.Gly733Ala
NM_001257965.2:c.2327G>C	NP_001244894.1:p.Gly776Ala
NR_047563.2:n.2487G>C
NR_047564.2:n.2695G>C
NM_001257966.2:c.2128+5903G>C	NP_001244895.1:n.2128+5903G>C