Canonical Allele Identifier: CA344029835

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1333629
• ClinVar RCV Id: RCV001808845
• dbSNP Id: rs2125468972
• MyVariant Identifiers: chr1:g.197390193G>T (hg19) ; chr1:g.197421063G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421063G>T , CM000663.2:g.197421063G>T	GRCh38
NC_000001.10:g.197390193G>T , CM000663.1:g.197390193G>T	GRCh37
NC_000001.9:g.195656816G>T	NCBI36
NG_008483.1:g.157786G>T
NG_008483.2:g.224602G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1235G>T MANE Select	ENSP00000356370.3:p.Cys412Phe
ENST00000638467.1:c.1235G>T	ENSP00000491102.1:p.Cys412Phe
ENST00000681519.1:c.116G>T	ENSP00000505267.1:p.Cys39Phe
ENST00000367397.1:c.-623G>T	ENSP00000356367.1:n.-623G>T
ENST00000367399.6:c.899G>T	ENSP00000356369.2:p.Cys300Phe
ENST00000367400.7:c.1235G>T	ENSP00000356370.3:p.Cys412Phe
ENST00000476483.1:n.195G>T
ENST00000484075.5:c.1235G>T	ENSP00000433932.1:p.Cys412Phe
ENST00000535699.5:c.1028G>T	ENSP00000438786.1:p.Cys343Phe
ENST00000538660.5:c.1235G>T	ENSP00000438091.1:p.Cys412Phe
NM_001193640.1:c.899G>T	NP_001180569.1:p.Cys300Phe
NM_001257965.1:c.1028G>T	NP_001244894.1:p.Cys343Phe
NM_001257966.1:c.1235G>T	NP_001244895.1:p.Cys412Phe
NM_201253.2:c.1235G>T	NP_957705.1:p.Cys412Phe
NR_047563.1:n.1444G>T
NR_047564.1:n.1444G>T
XM_011509365.1:c.1235G>T	XP_011507667.1:p.Cys412Phe
XM_011509366.1:c.1235G>T	XP_011507668.1:p.Cys412Phe
XM_011509367.1:c.1235G>T	XP_011507669.1:p.Cys412Phe
XM_011509368.1:c.653G>T	XP_011507670.1:p.Cys218Phe
XM_011509369.1:c.-323G>T	XP_011507671.1:n.-323G>T
XM_011509365.2:c.1235G>T	XP_011507667.1:p.Cys412Phe
XM_011509369.2:c.-323G>T	XP_011507671.1:n.-323G>T
XM_017000851.1:c.392G>T	XP_016856340.1:p.Cys131Phe
XM_017000852.1:c.1235G>T	XP_016856341.1:p.Cys412Phe
NM_201253.3:c.1235G>T MANE Select	NP_957705.1:p.Cys412Phe
NM_001193640.2:c.899G>T	NP_001180569.1:p.Cys300Phe
NM_001257965.2:c.1028G>T	NP_001244894.1:p.Cys343Phe
NR_047563.2:n.1396G>T
NR_047564.2:n.1396G>T
NM_001257966.2:c.1235G>T	NP_001244895.1:p.Cys412Phe