Canonical Allele Identifier: CA9135338

Gene: INSR

Linked Data

• dbSNP Id: rs759020723
• ExAC: 19:7125365 C / T
• gnomAD v2: 19-7125365-C-T
• gnomAD v4: 19-7125354-C-T
• MyVariant Identifiers: chr19:g.7125365C>T (hg19) ; chr19:g.7125354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125354C>T , CM000681.2:g.7125354C>T	GRCh38
NC_000019.9:g.7125365C>T , CM000681.1:g.7125365C>T	GRCh37
NC_000019.8:g.7076365C>T	NCBI36
NG_008852.2:g.173647G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3187G>A MANE Select	ENSP00000303830.4:p.Ala1063Thr
ENST00000302850.9:c.3187G>A	ENSP00000303830.4:p.Ala1063Thr
ENST00000341500.9:c.3151G>A	ENSP00000342838.4:p.Ala1051Thr
ENST00000593970.1:n.33G>A
NM_000208.2:c.3187G>A	NP_000199.2:p.Ala1063Thr
NM_000208.3:c.3187G>A	NP_000199.2:p.Ala1063Thr
NM_001079817.1:c.3151G>A	NP_001073285.1:p.Ala1051Thr
NM_001079817.2:c.3151G>A	NP_001073285.1:p.Ala1051Thr
XM_011527988.1:c.3262G>A	XP_011526290.1:p.Ala1088Thr
XM_011527989.1:c.3226G>A	XP_011526291.1:p.Ala1076Thr
XM_011527988.2:c.3184G>A	XP_011526290.2:p.Ala1062Thr
XM_011527989.3:c.3148G>A	XP_011526291.2:p.Ala1050Thr
NM_000208.4:c.3187G>A MANE Select	NP_000199.2:p.Ala1063Thr
NM_001079817.3:c.3151G>A	NP_001073285.1:p.Ala1051Thr