Canonical Allele Identifier: CA344047041

Gene: CRB1

Linked Data

• ClinVar Variation Id: 973925
• ClinVar RCV Id: RCV001250637
• dbSNP Id: rs1665084413
• MyVariant Identifiers: chr1:g.197404301G>T (hg19) ; chr1:g.197435171G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435171G>T , CM000663.2:g.197435171G>T	GRCh38
NC_000001.10:g.197404301G>T , CM000663.1:g.197404301G>T	GRCh37
NC_000001.9:g.195670924G>T	NCBI36
NG_008483.1:g.171894G>T
NG_008483.2:g.238710G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3308G>T MANE Select	ENSP00000356370.3:p.Gly1103Val
ENST00000638467.1:c.3308G>T	ENSP00000491102.1:p.Gly1103Val
ENST00000681519.1:c.2189G>T	ENSP00000505267.1:p.Gly730Val
ENST00000367397.1:c.1451G>T	ENSP00000356367.1:p.Gly484Val
ENST00000367399.6:c.2972G>T	ENSP00000356369.2:p.Gly991Val
ENST00000367400.7:c.3308G>T	ENSP00000356370.3:p.Gly1103Val
ENST00000484075.5:c.3308G>T	ENSP00000433932.1:p.Gly1103Val
ENST00000535699.5:c.3236G>T	ENSP00000438786.1:p.Gly1079Val
ENST00000538660.5:c.2129-429G>T	ENSP00000438091.1:n.2129-429G>T
NM_001193640.1:c.2972G>T	NP_001180569.1:p.Gly991Val
NM_001257965.1:c.3236G>T	NP_001244894.1:p.Gly1079Val
NM_001257966.1:c.2129-429G>T	NP_001244895.1:n.2129-429G>T
NM_201253.2:c.3308G>T	NP_957705.1:p.Gly1103Val
NR_047563.1:n.3309G>T
NR_047564.1:n.3517G>T
XM_011509365.1:c.3308G>T	XP_011507667.1:p.Gly1103Val
XM_011509366.1:c.3308G>T	XP_011507668.1:p.Gly1103Val
XM_011509367.1:c.3308G>T	XP_011507669.1:p.Gly1103Val
XM_011509368.1:c.2726G>T	XP_011507670.1:p.Gly909Val
XM_011509369.1:c.1751G>T	XP_011507671.1:p.Gly584Val
XM_011509365.2:c.3308G>T	XP_011507667.1:p.Gly1103Val
XM_011509369.2:c.1751G>T	XP_011507671.1:p.Gly584Val
XM_017000851.1:c.2465G>T	XP_016856340.1:p.Gly822Val
XM_017000852.1:c.3443G>T	XP_016856341.1:p.Gly1148Val
NM_201253.3:c.3308G>T MANE Select	NP_957705.1:p.Gly1103Val
NM_001193640.2:c.2972G>T	NP_001180569.1:p.Gly991Val
NM_001257965.2:c.3236G>T	NP_001244894.1:p.Gly1079Val
NR_047563.2:n.3261G>T
NR_047564.2:n.3469G>T
NM_001257966.2:c.2129-429G>T	NP_001244895.1:n.2129-429G>T