Canonical Allele Identifier: CA9135242
Community Standard Title: NM_000208.4(INSR):c.3501C>T (p.Val1167=)
Gene: INSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7122642G>A , CM000681.2:g.7122642G>A GRCh38
NC_000019.9:g.7122653G>A , CM000681.1:g.7122653G>A GRCh37
NC_000019.8:g.7073653G>A NCBI36
NG_008852.2:g.176359C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000208.4:c.3501C>T MANE Select NP_000199.2:p.Val1167=
ENST00000302850.10:c.3501C>T MANE Select ENSP00000303830.4:p.Val1167=
NM_000208.2:c.3501C>T NP_000199.2:p.Val1167=
NM_000208.3:c.3501C>T NP_000199.2:p.Val1167=
NM_001079817.1:c.3465C>T NP_001073285.1:p.Val1155=
NM_001079817.2:c.3465C>T NP_001073285.1:p.Val1155=
NM_001079817.3:c.3465C>T NP_001073285.1:p.Val1155=
ENST00000302850.9:c.3501C>T ENSP00000303830.4:p.Val1167=
ENST00000341500.9:c.3465C>T ENSP00000342838.4:p.Val1155=
ENST00000593970.1:n.347C>T
ENST00000601099.1:n.412C>T
XM_011527988.1:c.3576C>T XP_011526290.1:p.Val1192=
XM_011527988.2:c.3498C>T XP_011526290.2:p.Val1166=
XM_011527989.1:c.3540C>T XP_011526291.1:p.Val1180=
XM_011527989.3:c.3462C>T XP_011526291.2:p.Val1154=