Canonical Allele Identifier: CA403671175

Gene: INSR

Linked Data

• MyVariant Identifiers: chr19:g.7125391A>G (hg19) ; chr19:g.7125380A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125380A>G , CM000681.2:g.7125380A>G	GRCh38
NC_000019.9:g.7125391A>G , CM000681.1:g.7125391A>G	GRCh37
NC_000019.8:g.7076391A>G	NCBI36
NG_008852.2:g.173621T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3161T>C MANE Select	ENSP00000303830.4:p.Val1054Ala
ENST00000302850.9:c.3161T>C	ENSP00000303830.4:p.Val1054Ala
ENST00000341500.9:c.3125T>C	ENSP00000342838.4:p.Val1042Ala
ENST00000593970.1:n.7T>C
NM_000208.2:c.3161T>C	NP_000199.2:p.Val1054Ala
NM_000208.3:c.3161T>C	NP_000199.2:p.Val1054Ala
NM_001079817.1:c.3125T>C	NP_001073285.1:p.Val1042Ala
NM_001079817.2:c.3125T>C	NP_001073285.1:p.Val1042Ala
XM_011527988.1:c.3236T>C	XP_011526290.1:p.Val1079Ala
XM_011527989.1:c.3200T>C	XP_011526291.1:p.Val1067Ala
XM_011527988.2:c.3158T>C	XP_011526290.2:p.Val1053Ala
XM_011527989.3:c.3122T>C	XP_011526291.2:p.Val1041Ala
NM_000208.4:c.3161T>C MANE Select	NP_000199.2:p.Val1054Ala
NM_001079817.3:c.3125T>C	NP_001073285.1:p.Val1042Ala