Canonical Allele Identifier: CA457567807

Gene: CALU OPN1SW

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128772567G>A , CM000669.2:g.128772567G>A	GRCh38
NC_000007.13:g.128412621G>A , CM000669.1:g.128412621G>A	GRCh37
NC_000007.12:g.128199857G>A	NCBI36
NG_009094.1:g.8224C>T
NG_033110.1:g.38276G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001219.5:c.*3400G>A (CALU) MANE Select	NP_001210.1:n.*3400G>A
NM_001385125.1:c.1011C>T (OPN1SW) MANE Select	NP_001372054.1:p.Val337=
ENST00000249364.9:c.*3400G>A (CALU) MANE Select	ENSP00000249364.4:n.*3400G>A
ENST00000249389.3:c.1011C>T (OPN1SW) MANE Select	ENSP00000249389.3:p.Val337=
NM_001130674.2:c.*3400G>A (CALU)	NP_001124146.1:n.*3400G>A
NM_001130674.3:c.*3400G>A (CALU)	NP_001124146.1:n.*3400G>A
NM_001199671.1:c.*3400G>A (CALU)	NP_001186600.1:n.*3400G>A
NM_001199671.2:c.*3400G>A (CALU)	NP_001186600.1:n.*3400G>A
NM_001199672.1:c.*3400G>A (CALU)	NP_001186601.1:n.*3400G>A
NM_001199672.2:c.*3400G>A (CALU)	NP_001186601.1:n.*3400G>A
NM_001199673.1:c.*3473G>A (CALU)	NP_001186602.1:n.*3473G>A
NM_001199673.2:c.*3473G>A (CALU)	NP_001186602.1:n.*3473G>A
NM_001219.4:c.*3400G>A (CALU)	NP_001210.1:n.*3400G>A
NM_001708.2:c.1020C>T (OPN1SW)	NP_001699.1:p.Val340=
NR_074086.1:n.4074G>A (CALU)
NR_074086.2:n.4007G>A (CALU)
ENST00000249389.2:c.1020C>T (OPN1SW)	ENSP00000249389.2:p.Val340=
ENST00000449187.7:c.*3400G>A (CALU)	ENSP00000408838.2:n.*3400G>A
ENST00000542996.7:c.*3400G>A (CALU)	ENSP00000438248.1:n.*3400G>A
XM_011516588.1:c.*3400G>A (CALU)	XP_011514890.1:n.*3400G>A