Canonical Allele Identifier: CA403671922

Gene: INSR

Linked Data

• ClinVar Variation Id: 1708445
• ClinVar RCV Id: RCV002287818
• MyVariant Identifiers: chr19:g.7132181C>G (hg19) ; chr19:g.7132170C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7132170C>G , CM000681.2:g.7132170C>G	GRCh38
NC_000019.9:g.7132181C>G , CM000681.1:g.7132181C>G	GRCh37
NC_000019.8:g.7083181C>G	NCBI36
NG_008852.2:g.166831G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.2830G>C MANE Select	ENSP00000303830.4:p.Val944Leu
ENST00000302850.9:c.2830G>C	ENSP00000303830.4:p.Val944Leu
ENST00000341500.9:c.2794G>C	ENSP00000342838.4:p.Val932Leu
NM_000208.2:c.2830G>C	NP_000199.2:p.Val944Leu
NM_000208.3:c.2830G>C	NP_000199.2:p.Val944Leu
NM_001079817.1:c.2794G>C	NP_001073285.1:p.Val932Leu
NM_001079817.2:c.2794G>C	NP_001073285.1:p.Val932Leu
XM_011527988.1:c.2908G>C	XP_011526290.1:p.Val970Leu
XM_011527989.1:c.2872G>C	XP_011526291.1:p.Val958Leu
XM_011527988.2:c.2830G>C	XP_011526290.2:p.Val944Leu
XM_011527989.3:c.2794G>C	XP_011526291.2:p.Val932Leu
NM_000208.4:c.2830G>C MANE Select	NP_000199.2:p.Val944Leu
NM_001079817.3:c.2794G>C	NP_001073285.1:p.Val932Leu