Canonical Allele Identifier: CA422677510

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1627887
• ClinVar RCV Id: RCV002133027
• dbSNP Id: rs2125573927
• MyVariant Identifiers: chr1:g.197446856A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477726A>G , CM000663.2:g.197477726A>G	GRCh38
NC_000001.10:g.197446856A>G , CM000663.1:g.197446856A>G	GRCh37
NC_000001.9:g.195713479A>G	NCBI36
NG_008483.1:g.214449A>G
NG_008483.2:g.281265A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4068A>G MANE Select	ENSP00000356370.3:p.Leu1356=
ENST00000367399.6:c.3732A>G	ENSP00000356369.2:p.Leu1244=
ENST00000367400.7:c.4068A>G	ENSP00000356370.3:p.Leu1356=
ENST00000448952.1:c.302A>G	ENSP00000395407.1:n.302A>G
ENST00000484075.5:c.*179A>G	ENSP00000433932.1:n.*179A>G
ENST00000535699.5:c.3996A>G	ENSP00000438786.1:p.Leu1332=
ENST00000538660.5:c.2460A>G	ENSP00000438091.1:p.Leu820=
NM_001193640.1:c.3732A>G	NP_001180569.1:p.Leu1244=
NM_001257965.1:c.3996A>G	NP_001244894.1:p.Leu1332=
NM_001257966.1:c.2460A>G	NP_001244895.1:p.Leu820=
NM_201253.2:c.4068A>G	NP_957705.1:p.Leu1356=
NR_047563.1:n.4069A>G
NR_047564.1:n.4519A>G
XM_011509366.1:c.*173A>G	XP_011507668.1:n.*173A>G
XM_011509367.1:c.*47A>G	XP_011507669.1:n.*47A>G
XM_011509368.1:c.3486A>G	XP_011507670.1:p.Leu1162=
XM_011509369.1:c.2511A>G	XP_011507671.1:p.Leu837=
XM_011509369.2:c.2511A>G	XP_011507671.1:p.Leu837=
XM_017000851.1:c.3225A>G	XP_016856340.1:p.Leu1075=
XM_017000852.1:c.4203A>G	XP_016856341.1:p.Leu1401=
NM_201253.3:c.4068A>G MANE Select	NP_957705.1:p.Leu1356=
NM_001193640.2:c.3732A>G	NP_001180569.1:p.Leu1244=
NM_001257965.2:c.3996A>G	NP_001244894.1:p.Leu1332=
NR_047563.2:n.4021A>G
NR_047564.2:n.4471A>G
NM_001257966.2:c.2460A>G	NP_001244895.1:p.Leu820=