Canonical Allele Identifier: CA403670990

Gene: INSR

Linked Data

• dbSNP Id: rs2144813738
• MyVariant Identifiers: chr19:g.7125304C>T (hg19) ; chr19:g.7125293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125293C>T , CM000681.2:g.7125293C>T	GRCh38
NC_000019.9:g.7125304C>T , CM000681.1:g.7125304C>T	GRCh37
NC_000019.8:g.7076304C>T	NCBI36
NG_008852.2:g.173708G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3248G>A MANE Select	ENSP00000303830.4:p.Cys1083Tyr
ENST00000302850.9:c.3248G>A	ENSP00000303830.4:p.Cys1083Tyr
ENST00000341500.9:c.3212G>A	ENSP00000342838.4:p.Cys1071Tyr
ENST00000593970.1:n.94G>A
NM_000208.2:c.3248G>A	NP_000199.2:p.Cys1083Tyr
NM_000208.3:c.3248G>A	NP_000199.2:p.Cys1083Tyr
NM_001079817.1:c.3212G>A	NP_001073285.1:p.Cys1071Tyr
NM_001079817.2:c.3212G>A	NP_001073285.1:p.Cys1071Tyr
XM_011527988.1:c.3323G>A	XP_011526290.1:p.Cys1108Tyr
XM_011527989.1:c.3287G>A	XP_011526291.1:p.Cys1096Tyr
XM_011527988.2:c.3245G>A	XP_011526290.2:p.Cys1082Tyr
XM_011527989.3:c.3209G>A	XP_011526291.2:p.Cys1070Tyr
NM_000208.4:c.3248G>A MANE Select	NP_000199.2:p.Cys1083Tyr
NM_001079817.3:c.3212G>A	NP_001073285.1:p.Cys1071Tyr