Canonical Allele Identifier: CA344032943

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1064145
• ClinVar RCV Id: RCV001374074
• dbSNP Id: rs1218091828
• gnomAD v3: 1-197421761-G-T
• gnomAD v4: 1-197421761-G-T
• COSMIC: COSM901765
• MyVariant Identifiers: chr1:g.197390891G>T (hg19) ; chr1:g.197421761G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421761G>T , CM000663.2:g.197421761G>T	GRCh38
NC_000001.10:g.197390891G>T , CM000663.1:g.197390891G>T	GRCh37
NC_000001.9:g.195657514G>T	NCBI36
NG_008483.1:g.158484G>T
NG_008483.2:g.225300G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1933G>T MANE Select	ENSP00000356370.3:p.Asp645Tyr
ENST00000638467.1:c.1933G>T	ENSP00000491102.1:p.Asp645Tyr
ENST00000681519.1:c.814G>T	ENSP00000505267.1:p.Asp272Tyr
ENST00000367397.1:c.76G>T	ENSP00000356367.1:p.Asp26Tyr
ENST00000367399.6:c.1597G>T	ENSP00000356369.2:p.Asp533Tyr
ENST00000367400.7:c.1933G>T	ENSP00000356370.3:p.Asp645Tyr
ENST00000484075.5:c.1933G>T	ENSP00000433932.1:p.Asp645Tyr
ENST00000535699.5:c.1726G>T	ENSP00000438786.1:p.Asp576Tyr
ENST00000538660.5:c.1933G>T	ENSP00000438091.1:p.Asp645Tyr
NM_001193640.1:c.1597G>T	NP_001180569.1:p.Asp533Tyr
NM_001257965.1:c.1726G>T	NP_001244894.1:p.Asp576Tyr
NM_001257966.1:c.1933G>T	NP_001244895.1:p.Asp645Tyr
NM_201253.2:c.1933G>T	NP_957705.1:p.Asp645Tyr
NR_047563.1:n.1934G>T
NR_047564.1:n.2142G>T
XM_011509365.1:c.1933G>T	XP_011507667.1:p.Asp645Tyr
XM_011509366.1:c.1933G>T	XP_011507668.1:p.Asp645Tyr
XM_011509367.1:c.1933G>T	XP_011507669.1:p.Asp645Tyr
XM_011509368.1:c.1351G>T	XP_011507670.1:p.Asp451Tyr
XM_011509369.1:c.376G>T	XP_011507671.1:p.Asp126Tyr
XM_011509365.2:c.1933G>T	XP_011507667.1:p.Asp645Tyr
XM_011509369.2:c.376G>T	XP_011507671.1:p.Asp126Tyr
XM_017000851.1:c.1090G>T	XP_016856340.1:p.Asp364Tyr
XM_017000852.1:c.1933G>T	XP_016856341.1:p.Asp645Tyr
NM_201253.3:c.1933G>T MANE Select	NP_957705.1:p.Asp645Tyr
NM_001193640.2:c.1597G>T	NP_001180569.1:p.Asp533Tyr
NM_001257965.2:c.1726G>T	NP_001244894.1:p.Asp576Tyr
NR_047563.2:n.1886G>T
NR_047564.2:n.2094G>T
NM_001257966.2:c.1933G>T	NP_001244895.1:p.Asp645Tyr