Canonical Allele Identifier: CA228007

Gene: CRB1

Linked Data

• ClinVar Variation Id: 99879
• ClinVar RCV Id: RCV000086319
• dbSNP Id: rs62636268
• MyVariant Identifiers: chr1:g.197396896T>A (hg19) ; chr1:g.197427766T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427766T>A , CM000663.2:g.197427766T>A	GRCh38
NC_000001.10:g.197396896T>A , CM000663.1:g.197396896T>A	GRCh37
NC_000001.9:g.195663519T>A	NCBI36
NG_008483.1:g.164489T>A
NG_008483.2:g.231305T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2441T>A MANE Select	ENSP00000356370.3:p.Leu814Gln
ENST00000638467.1:c.2441T>A	ENSP00000491102.1:p.Leu814Gln
ENST00000681519.1:c.1322T>A	ENSP00000505267.1:p.Leu441Gln
ENST00000367397.1:c.584T>A	ENSP00000356367.1:p.Leu195Gln
ENST00000367399.6:c.2105T>A	ENSP00000356369.2:p.Leu702Gln
ENST00000367400.7:c.2441T>A	ENSP00000356370.3:p.Leu814Gln
ENST00000480086.2:n.342T>A
ENST00000484075.5:c.2441T>A	ENSP00000433932.1:p.Leu814Gln
ENST00000535699.5:c.2234T>A	ENSP00000438786.1:p.Leu745Gln
ENST00000538660.5:c.2128+5810T>A	ENSP00000438091.1:n.2128+5810T>A
NM_001193640.1:c.2105T>A	NP_001180569.1:p.Leu702Gln
NM_001257965.1:c.2234T>A	NP_001244894.1:p.Leu745Gln
NM_001257966.1:c.2128+5810T>A	NP_001244895.1:n.2128+5810T>A
NM_201253.2:c.2441T>A	NP_957705.1:p.Leu814Gln
NR_047563.1:n.2442T>A
NR_047564.1:n.2650T>A
XM_011509365.1:c.2441T>A	XP_011507667.1:p.Leu814Gln
XM_011509366.1:c.2441T>A	XP_011507668.1:p.Leu814Gln
XM_011509367.1:c.2441T>A	XP_011507669.1:p.Leu814Gln
XM_011509368.1:c.1859T>A	XP_011507670.1:p.Leu620Gln
XM_011509369.1:c.884T>A	XP_011507671.1:p.Leu295Gln
XM_011509365.2:c.2441T>A	XP_011507667.1:p.Leu814Gln
XM_011509369.2:c.884T>A	XP_011507671.1:p.Leu295Gln
XM_017000851.1:c.1598T>A	XP_016856340.1:p.Leu533Gln
XM_017000852.1:c.2441T>A	XP_016856341.1:p.Leu814Gln
NM_201253.3:c.2441T>A MANE Select	NP_957705.1:p.Leu814Gln
NM_001193640.2:c.2105T>A	NP_001180569.1:p.Leu702Gln
NM_001257965.2:c.2234T>A	NP_001244894.1:p.Leu745Gln
NR_047563.2:n.2394T>A
NR_047564.2:n.2602T>A
NM_001257966.2:c.2128+5810T>A	NP_001244895.1:n.2128+5810T>A