Canonical Allele Identifier: CA422808855

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2929891
• ClinVar RCV Id: RCV003787249
• dbSNP Id: rs1664672265
• gnomAD v4: 1-197427830-A-G
• MyVariant Identifiers: chr1:g.197396960A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427830A>G , CM000663.2:g.197427830A>G	GRCh38
NC_000001.10:g.197396960A>G , CM000663.1:g.197396960A>G	GRCh37
NC_000001.9:g.195663583A>G	NCBI36
NG_008483.1:g.164553A>G
NG_008483.2:g.231369A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.2505A>G MANE Select	ENSP00000356370.3:p.Leu835=
ENST00000638467.1:c.2505A>G	ENSP00000491102.1:p.Leu835=
ENST00000681519.1:c.1386A>G	ENSP00000505267.1:p.Leu462=
ENST00000367397.1:c.648A>G	ENSP00000356367.1:p.Leu216=
ENST00000367399.6:c.2169A>G	ENSP00000356369.2:p.Leu723=
ENST00000367400.7:c.2505A>G	ENSP00000356370.3:p.Leu835=
ENST00000480086.2:n.406A>G
ENST00000484075.5:c.2505A>G	ENSP00000433932.1:p.Leu835=
ENST00000535699.5:c.2298A>G	ENSP00000438786.1:p.Leu766=
ENST00000538660.5:c.2128+5874A>G	ENSP00000438091.1:n.2128+5874A>G
NM_001193640.1:c.2169A>G	NP_001180569.1:p.Leu723=
NM_001257965.1:c.2298A>G	NP_001244894.1:p.Leu766=
NM_001257966.1:c.2128+5874A>G	NP_001244895.1:n.2128+5874A>G
NM_201253.2:c.2505A>G	NP_957705.1:p.Leu835=
NR_047563.1:n.2506A>G
NR_047564.1:n.2714A>G
XM_011509365.1:c.2505A>G	XP_011507667.1:p.Leu835=
XM_011509366.1:c.2505A>G	XP_011507668.1:p.Leu835=
XM_011509367.1:c.2505A>G	XP_011507669.1:p.Leu835=
XM_011509368.1:c.1923A>G	XP_011507670.1:p.Leu641=
XM_011509369.1:c.948A>G	XP_011507671.1:p.Leu316=
XM_011509365.2:c.2505A>G	XP_011507667.1:p.Leu835=
XM_011509369.2:c.948A>G	XP_011507671.1:p.Leu316=
XM_017000851.1:c.1662A>G	XP_016856340.1:p.Leu554=
XM_017000852.1:c.2505A>G	XP_016856341.1:p.Leu835=
NM_201253.3:c.2505A>G MANE Select	NP_957705.1:p.Leu835=
NM_001193640.2:c.2169A>G	NP_001180569.1:p.Leu723=
NM_001257965.2:c.2298A>G	NP_001244894.1:p.Leu766=
NR_047563.2:n.2458A>G
NR_047564.2:n.2666A>G
NM_001257966.2:c.2128+5874A>G	NP_001244895.1:n.2128+5874A>G