Canonical Allele Identifier: CA344035919

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446965A>G (hg19) ; chr1:g.197477835A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477835A>G , CM000663.2:g.197477835A>G	GRCh38
NC_000001.10:g.197446965A>G , CM000663.1:g.197446965A>G	GRCh37
NC_000001.9:g.195713588A>G	NCBI36
NG_008483.1:g.214558A>G
NG_008483.2:g.281374A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4177A>G MANE Select	ENSP00000356370.3:p.Met1393Val
ENST00000367399.6:c.3841A>G	ENSP00000356369.2:p.Met1281Val
ENST00000367400.7:c.4177A>G	ENSP00000356370.3:p.Met1393Val
ENST00000448952.1:c.411A>G	ENSP00000395407.1:n.411A>G
ENST00000484075.5:c.*288A>G	ENSP00000433932.1:n.*288A>G
ENST00000535699.5:c.4105A>G	ENSP00000438786.1:p.Met1369Val
ENST00000538660.5:c.2569A>G	ENSP00000438091.1:p.Met857Val
NM_001193640.1:c.3841A>G	NP_001180569.1:p.Met1281Val
NM_001257965.1:c.4105A>G	NP_001244894.1:p.Met1369Val
NM_001257966.1:c.2569A>G	NP_001244895.1:p.Met857Val
NM_201253.2:c.4177A>G	NP_957705.1:p.Met1393Val
NR_047563.1:n.4178A>G
NR_047564.1:n.4628A>G
XM_011509366.1:c.*282A>G	XP_011507668.1:n.*282A>G
XM_011509367.1:c.*156A>G	XP_011507669.1:n.*156A>G
XM_011509368.1:c.3595A>G	XP_011507670.1:p.Met1199Val
XM_011509369.1:c.2620A>G	XP_011507671.1:p.Met874Val
XM_011509369.2:c.2620A>G	XP_011507671.1:p.Met874Val
XM_017000851.1:c.3334A>G	XP_016856340.1:p.Met1112Val
XM_017000852.1:c.4312A>G	XP_016856341.1:p.Met1438Val
NM_201253.3:c.4177A>G MANE Select	NP_957705.1:p.Met1393Val
NM_001193640.2:c.3841A>G	NP_001180569.1:p.Met1281Val
NM_001257965.2:c.4105A>G	NP_001244894.1:p.Met1369Val
NR_047563.2:n.4130A>G
NR_047564.2:n.4580A>G
NM_001257966.2:c.2569A>G	NP_001244895.1:p.Met857Val