Canonical Allele Identifier: CA369220982
Gene: OPN1SW HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.128415205A>G (hg19) chr7:g.128775151A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128775151A>G , CM000669.2:g.128775151A>G GRCh38
NC_000007.13:g.128415205A>G , CM000669.1:g.128415205A>G GRCh37
NC_000007.12:g.128202441A>G NCBI36
NG_009094.1:g.5640T>C
NG_033110.1:g.40860A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000249389.3:c.347T>C MANE Select ENSP00000249389.3:p.Leu116Pro
ENST00000249389.2:c.356T>C ENSP00000249389.2:p.Leu119Pro
NM_001708.2:c.356T>C NP_001699.1:p.Leu119Pro
NM_001385125.1:c.347T>C MANE Select NP_001372054.1:p.Leu116Pro
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