Canonical Allele Identifier: CA403671032

Gene: INSR

Linked Data

• MyVariant Identifiers: chr19:g.7125323C>G (hg19) ; chr19:g.7125312C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125312C>G , CM000681.2:g.7125312C>G	GRCh38
NC_000019.9:g.7125323C>G , CM000681.1:g.7125323C>G	GRCh37
NC_000019.8:g.7076323C>G	NCBI36
NG_008852.2:g.173689G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3229G>C MANE Select	ENSP00000303830.4:p.Val1077Leu
ENST00000302850.9:c.3229G>C	ENSP00000303830.4:p.Val1077Leu
ENST00000341500.9:c.3193G>C	ENSP00000342838.4:p.Val1065Leu
ENST00000593970.1:n.75G>C
NM_000208.2:c.3229G>C	NP_000199.2:p.Val1077Leu
NM_000208.3:c.3229G>C	NP_000199.2:p.Val1077Leu
NM_001079817.1:c.3193G>C	NP_001073285.1:p.Val1065Leu
NM_001079817.2:c.3193G>C	NP_001073285.1:p.Val1065Leu
XM_011527988.1:c.3304G>C	XP_011526290.1:p.Val1102Leu
XM_011527989.1:c.3268G>C	XP_011526291.1:p.Val1090Leu
XM_011527988.2:c.3226G>C	XP_011526290.2:p.Val1076Leu
XM_011527989.3:c.3190G>C	XP_011526291.2:p.Val1064Leu
NM_000208.4:c.3229G>C MANE Select	NP_000199.2:p.Val1077Leu
NM_001079817.3:c.3193G>C	NP_001073285.1:p.Val1065Leu