Canonical Allele Identifier: CA344028179

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1199331
• ClinVar RCV Id: RCV001563889 ; RCV001563890
• dbSNP Id: rs781359016
• gnomAD v2: 1-197390162-T-G
• gnomAD v4: 1-197421032-T-G
• MyVariant Identifiers: chr1:g.197390162T>G (hg19) ; chr1:g.197421032T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421032T>G , CM000663.2:g.197421032T>G	GRCh38
NC_000001.10:g.197390162T>G , CM000663.1:g.197390162T>G	GRCh37
NC_000001.9:g.195656785T>G	NCBI36
NG_008483.1:g.157755T>G
NG_008483.2:g.224571T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1204T>G MANE Select	ENSP00000356370.3:p.Ser402Ala
ENST00000638467.1:c.1204T>G	ENSP00000491102.1:p.Ser402Ala
ENST00000681519.1:c.85T>G	ENSP00000505267.1:p.Ser29Ala
ENST00000367397.1:c.-654T>G	ENSP00000356367.1:n.-654T>G
ENST00000367399.6:c.868T>G	ENSP00000356369.2:p.Ser290Ala
ENST00000367400.7:c.1204T>G	ENSP00000356370.3:p.Ser402Ala
ENST00000476483.1:n.164T>G
ENST00000484075.5:c.1204T>G	ENSP00000433932.1:p.Ser402Ala
ENST00000535699.5:c.997T>G	ENSP00000438786.1:p.Ser333Ala
ENST00000538660.5:c.1204T>G	ENSP00000438091.1:p.Ser402Ala
NM_001193640.1:c.868T>G	NP_001180569.1:p.Ser290Ala
NM_001257965.1:c.997T>G	NP_001244894.1:p.Ser333Ala
NM_001257966.1:c.1204T>G	NP_001244895.1:p.Ser402Ala
NM_201253.2:c.1204T>G	NP_957705.1:p.Ser402Ala
NR_047563.1:n.1413T>G
NR_047564.1:n.1413T>G
XM_011509365.1:c.1204T>G	XP_011507667.1:p.Ser402Ala
XM_011509366.1:c.1204T>G	XP_011507668.1:p.Ser402Ala
XM_011509367.1:c.1204T>G	XP_011507669.1:p.Ser402Ala
XM_011509368.1:c.622T>G	XP_011507670.1:p.Ser208Ala
XM_011509369.1:c.-354T>G	XP_011507671.1:n.-354T>G
XM_011509365.2:c.1204T>G	XP_011507667.1:p.Ser402Ala
XM_011509369.2:c.-354T>G	XP_011507671.1:n.-354T>G
XM_017000851.1:c.361T>G	XP_016856340.1:p.Ser121Ala
XM_017000852.1:c.1204T>G	XP_016856341.1:p.Ser402Ala
NM_201253.3:c.1204T>G MANE Select	NP_957705.1:p.Ser402Ala
NM_001193640.2:c.868T>G	NP_001180569.1:p.Ser290Ala
NM_001257965.2:c.997T>G	NP_001244894.1:p.Ser333Ala
NR_047563.2:n.1365T>G
NR_047564.2:n.1365T>G
NM_001257966.2:c.1204T>G	NP_001244895.1:p.Ser402Ala