Canonical Allele Identifier: CA403671323

Gene: INSR

Linked Data

• ClinVar Variation Id: 2663319
• ClinVar RCV Id: RCV003442507
• MyVariant Identifiers: chr19:g.7125458C>T (hg19) ; chr19:g.7125447C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125447C>T , CM000681.2:g.7125447C>T	GRCh38
NC_000019.9:g.7125458C>T , CM000681.1:g.7125458C>T	GRCh37
NC_000019.8:g.7076458C>T	NCBI36
NG_008852.2:g.173554G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3094G>A MANE Select	ENSP00000303830.4:p.Gly1032Ser
ENST00000302850.9:c.3094G>A	ENSP00000303830.4:p.Gly1032Ser
ENST00000341500.9:c.3058G>A	ENSP00000342838.4:p.Gly1020Ser
NM_000208.2:c.3094G>A	NP_000199.2:p.Gly1032Ser
NM_000208.3:c.3094G>A	NP_000199.2:p.Gly1032Ser
NM_001079817.1:c.3058G>A	NP_001073285.1:p.Gly1020Ser
NM_001079817.2:c.3058G>A	NP_001073285.1:p.Gly1020Ser
XM_011527988.1:c.3169G>A	XP_011526290.1:p.Gly1057Ser
XM_011527989.1:c.3133G>A	XP_011526291.1:p.Gly1045Ser
XM_011527988.2:c.3091G>A	XP_011526290.2:p.Gly1031Ser
XM_011527989.3:c.3055G>A	XP_011526291.2:p.Gly1019Ser
NM_000208.4:c.3094G>A MANE Select	NP_000199.2:p.Gly1032Ser
NM_001079817.3:c.3058G>A	NP_001073285.1:p.Gly1020Ser