Canonical Allele Identifier: CA369216244

Gene: CALU OPN1SW

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128772618C>G , CM000669.2:g.128772618C>G	GRCh38
NC_000007.13:g.128412672C>G , CM000669.1:g.128412672C>G	GRCh37
NC_000007.12:g.128199908C>G	NCBI36
NG_009094.1:g.8173G>C
NG_033110.1:g.38327C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449187.7:c.*3451C>G (CALU)	ENSP00000408838.2:n.*3451C>G
ENST00000542996.7:c.*3451C>G (CALU)	ENSP00000438248.1:n.*3451C>G
ENST00000249364.9:c.*3451C>G (CALU) MANE Select	ENSP00000249364.4:n.*3451C>G
ENST00000249389.3:c.960G>C (OPN1SW) MANE Select	ENSP00000249389.3:p.Met320Ile
ENST00000249389.2:c.969G>C (OPN1SW)	ENSP00000249389.2:p.Met323Ile
NM_001130674.2:c.*3451C>G (CALU)	NP_001124146.1:n.*3451C>G
NM_001199671.1:c.*3451C>G (CALU)	NP_001186600.1:n.*3451C>G
NM_001199672.1:c.*3451C>G (CALU)	NP_001186601.1:n.*3451C>G
NM_001199673.1:c.*3524C>G (CALU)	NP_001186602.1:n.*3524C>G
NM_001219.4:c.*3451C>G (CALU)	NP_001210.1:n.*3451C>G
NM_001708.2:c.969G>C (OPN1SW)	NP_001699.1:p.Met323Ile
NR_074086.1:n.4125C>G (CALU)
XM_011516588.1:c.*3451C>G (CALU)	XP_011514890.1:n.*3451C>G
NM_001219.5:c.*3451C>G (CALU) MANE Select	NP_001210.1:n.*3451C>G
NM_001130674.3:c.*3451C>G (CALU)	NP_001124146.1:n.*3451C>G
NM_001199671.2:c.*3451C>G (CALU)	NP_001186600.1:n.*3451C>G
NM_001199672.2:c.*3451C>G (CALU)	NP_001186601.1:n.*3451C>G
NM_001199673.2:c.*3524C>G (CALU)	NP_001186602.1:n.*3524C>G
NR_074086.2:n.4058C>G (CALU)
NM_001385125.1:c.960G>C (OPN1SW) MANE Select	NP_001372054.1:p.Met320Ile