Canonical Allele Identifier: CA344041381

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2093427
• ClinVar RCV Id: RCV003018726
• MyVariant Identifiers: chr1:g.197398735G>C (hg19) ; chr1:g.197429605G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429605G>C , CM000663.2:g.197429605G>C	GRCh38
NC_000001.10:g.197398735G>C , CM000663.1:g.197398735G>C	GRCh37
NC_000001.9:g.195665358G>C	NCBI36
NG_008483.1:g.166328G>C
NG_008483.2:g.233144G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2833G>C MANE Select	ENSP00000356370.3:p.Gly945Arg
ENST00000638467.1:c.2833G>C	ENSP00000491102.1:p.Gly945Arg
ENST00000681519.1:c.1714G>C	ENSP00000505267.1:p.Gly572Arg
ENST00000367397.1:c.976G>C	ENSP00000356367.1:p.Gly326Arg
ENST00000367399.6:c.2497G>C	ENSP00000356369.2:p.Gly833Arg
ENST00000367400.7:c.2833G>C	ENSP00000356370.3:p.Gly945Arg
ENST00000484075.5:c.2833G>C	ENSP00000433932.1:p.Gly945Arg
ENST00000535699.5:c.2761G>C	ENSP00000438786.1:p.Gly921Arg
ENST00000538660.5:c.2129-5995G>C	ENSP00000438091.1:n.2129-5995G>C
NM_001193640.1:c.2497G>C	NP_001180569.1:p.Gly833Arg
NM_001257965.1:c.2761G>C	NP_001244894.1:p.Gly921Arg
NM_001257966.1:c.2129-5995G>C	NP_001244895.1:n.2129-5995G>C
NM_201253.2:c.2833G>C	NP_957705.1:p.Gly945Arg
NR_047563.1:n.2834G>C
NR_047564.1:n.3042G>C
XM_011509365.1:c.2833G>C	XP_011507667.1:p.Gly945Arg
XM_011509366.1:c.2833G>C	XP_011507668.1:p.Gly945Arg
XM_011509367.1:c.2833G>C	XP_011507669.1:p.Gly945Arg
XM_011509368.1:c.2251G>C	XP_011507670.1:p.Gly751Arg
XM_011509369.1:c.1276G>C	XP_011507671.1:p.Gly426Arg
XM_011509365.2:c.2833G>C	XP_011507667.1:p.Gly945Arg
XM_011509369.2:c.1276G>C	XP_011507671.1:p.Gly426Arg
XM_017000851.1:c.1990G>C	XP_016856340.1:p.Gly664Arg
XM_017000852.1:c.2968G>C	XP_016856341.1:p.Gly990Arg
NM_201253.3:c.2833G>C MANE Select	NP_957705.1:p.Gly945Arg
NM_001193640.2:c.2497G>C	NP_001180569.1:p.Gly833Arg
NM_001257965.2:c.2761G>C	NP_001244894.1:p.Gly921Arg
NR_047563.2:n.2786G>C
NR_047564.2:n.2994G>C
NM_001257966.2:c.2129-5995G>C	NP_001244895.1:n.2129-5995G>C