Canonical Allele Identifier: CA457567849

Gene: CALU OPN1SW

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128772582T>G , CM000669.2:g.128772582T>G	GRCh38
NC_000007.13:g.128412636T>G , CM000669.1:g.128412636T>G	GRCh37
NC_000007.12:g.128199872T>G	NCBI36
NG_009094.1:g.8209A>C
NG_033110.1:g.38291T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001219.5:c.*3415T>G (CALU) MANE Select	NP_001210.1:n.*3415T>G
NM_001385125.1:c.996A>C (OPN1SW) MANE Select	NP_001372054.1:p.Thr332=
ENST00000249364.9:c.*3415T>G (CALU) MANE Select	ENSP00000249364.4:n.*3415T>G
ENST00000249389.3:c.996A>C (OPN1SW) MANE Select	ENSP00000249389.3:p.Thr332=
NM_001130674.2:c.*3415T>G (CALU)	NP_001124146.1:n.*3415T>G
NM_001130674.3:c.*3415T>G (CALU)	NP_001124146.1:n.*3415T>G
NM_001199671.1:c.*3415T>G (CALU)	NP_001186600.1:n.*3415T>G
NM_001199671.2:c.*3415T>G (CALU)	NP_001186600.1:n.*3415T>G
NM_001199672.1:c.*3415T>G (CALU)	NP_001186601.1:n.*3415T>G
NM_001199672.2:c.*3415T>G (CALU)	NP_001186601.1:n.*3415T>G
NM_001199673.1:c.*3488T>G (CALU)	NP_001186602.1:n.*3488T>G
NM_001199673.2:c.*3488T>G (CALU)	NP_001186602.1:n.*3488T>G
NM_001219.4:c.*3415T>G (CALU)	NP_001210.1:n.*3415T>G
NM_001708.2:c.1005A>C (OPN1SW)	NP_001699.1:p.Thr335=
NR_074086.1:n.4089T>G (CALU)
NR_074086.2:n.4022T>G (CALU)
ENST00000249389.2:c.1005A>C (OPN1SW)	ENSP00000249389.2:p.Thr335=
ENST00000449187.7:c.*3415T>G (CALU)	ENSP00000408838.2:n.*3415T>G
ENST00000542996.7:c.*3415T>G (CALU)	ENSP00000438248.1:n.*3415T>G
XM_011516588.1:c.*3415T>G (CALU)	XP_011514890.1:n.*3415T>G