Canonical Allele Identifier: CA35893495

Gene: CRB1

Linked Data

• ClinVar Variation Id: 866833
• ClinVar RCV Id: RCV001075152 ; RCV002557921 ; RCV003455402 ; RCV003455403 ; RCV003455404
• dbSNP Id: rs963201816
• MyVariant Identifiers: chr1:g.197390394T>C (hg19) ; chr1:g.197421264T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421264T>C , CM000663.2:g.197421264T>C	GRCh38
NC_000001.10:g.197390394T>C , CM000663.1:g.197390394T>C	GRCh37
NC_000001.9:g.195657017T>C	NCBI36
NG_008483.1:g.157987T>C
NG_008483.2:g.224803T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.1436T>C MANE Select	ENSP00000356370.3:p.Leu479Pro
ENST00000638467.1:c.1436T>C	ENSP00000491102.1:p.Leu479Pro
ENST00000681519.1:c.317T>C	ENSP00000505267.1:p.Leu106Pro
ENST00000367397.1:c.-422T>C	ENSP00000356367.1:n.-422T>C
ENST00000367399.6:c.1100T>C	ENSP00000356369.2:p.Leu367Pro
ENST00000367400.7:c.1436T>C	ENSP00000356370.3:p.Leu479Pro
ENST00000476483.1:n.396T>C
ENST00000484075.5:c.1436T>C	ENSP00000433932.1:p.Leu479Pro
ENST00000535699.5:c.1229T>C	ENSP00000438786.1:p.Leu410Pro
ENST00000538660.5:c.1436T>C	ENSP00000438091.1:p.Leu479Pro
NM_001193640.1:c.1100T>C	NP_001180569.1:p.Leu367Pro
NM_001257965.1:c.1229T>C	NP_001244894.1:p.Leu410Pro
NM_001257966.1:c.1436T>C	NP_001244895.1:p.Leu479Pro
NM_201253.2:c.1436T>C	NP_957705.1:p.Leu479Pro
NR_047563.1:n.1645T>C
NR_047564.1:n.1645T>C
XM_011509365.1:c.1436T>C	XP_011507667.1:p.Leu479Pro
XM_011509366.1:c.1436T>C	XP_011507668.1:p.Leu479Pro
XM_011509367.1:c.1436T>C	XP_011507669.1:p.Leu479Pro
XM_011509368.1:c.854T>C	XP_011507670.1:p.Leu285Pro
XM_011509369.1:c.-122T>C	XP_011507671.1:n.-122T>C
XM_011509365.2:c.1436T>C	XP_011507667.1:p.Leu479Pro
XM_011509369.2:c.-122T>C	XP_011507671.1:n.-122T>C
XM_017000851.1:c.593T>C	XP_016856340.1:p.Leu198Pro
XM_017000852.1:c.1436T>C	XP_016856341.1:p.Leu479Pro
NM_201253.3:c.1436T>C MANE Select	NP_957705.1:p.Leu479Pro
NM_001193640.2:c.1100T>C	NP_001180569.1:p.Leu367Pro
NM_001257965.2:c.1229T>C	NP_001244894.1:p.Leu410Pro
NR_047563.2:n.1597T>C
NR_047564.2:n.1597T>C
NM_001257966.2:c.1436T>C	NP_001244895.1:p.Leu479Pro