Canonical Allele Identifier: CA403669447

Gene: INSR

Linked Data

• MyVariant Identifiers: chr19:g.7120692C>A (hg19) ; chr19:g.7120681C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7120681C>A , CM000681.2:g.7120681C>A	GRCh38
NC_000019.9:g.7120692C>A , CM000681.1:g.7120692C>A	GRCh37
NC_000019.8:g.7071692C>A	NCBI36
NG_008852.2:g.178320G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3598G>T MANE Select	ENSP00000303830.4:p.Val1200Leu
ENST00000302850.9:c.3598G>T	ENSP00000303830.4:p.Val1200Leu
ENST00000341500.9:c.3562G>T	ENSP00000342838.4:p.Val1188Leu
ENST00000601099.1:n.509G>T
NM_000208.2:c.3598G>T	NP_000199.2:p.Val1200Leu
NM_000208.3:c.3598G>T	NP_000199.2:p.Val1200Leu
NM_001079817.1:c.3562G>T	NP_001073285.1:p.Val1188Leu
NM_001079817.2:c.3562G>T	NP_001073285.1:p.Val1188Leu
XM_011527988.1:c.3673G>T	XP_011526290.1:p.Val1225Leu
XM_011527989.1:c.3637G>T	XP_011526291.1:p.Val1213Leu
XM_011527988.2:c.3595G>T	XP_011526290.2:p.Val1199Leu
XM_011527989.3:c.3559G>T	XP_011526291.2:p.Val1187Leu
NM_000208.4:c.3598G>T MANE Select	NP_000199.2:p.Val1200Leu
NM_001079817.3:c.3562G>T	NP_001073285.1:p.Val1188Leu