Canonical Allele Identifier: CA403669450

Gene: INSR

Linked Data

• MyVariant Identifiers: chr19:g.7120694G>A (hg19) ; chr19:g.7120683G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7120683G>A , CM000681.2:g.7120683G>A	GRCh38
NC_000019.9:g.7120694G>A , CM000681.1:g.7120694G>A	GRCh37
NC_000019.8:g.7071694G>A	NCBI36
NG_008852.2:g.178318C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3596C>T MANE Select	ENSP00000303830.4:p.Pro1199Leu
ENST00000302850.9:c.3596C>T	ENSP00000303830.4:p.Pro1199Leu
ENST00000341500.9:c.3560C>T	ENSP00000342838.4:p.Pro1187Leu
ENST00000601099.1:n.507C>T
NM_000208.2:c.3596C>T	NP_000199.2:p.Pro1199Leu
NM_000208.3:c.3596C>T	NP_000199.2:p.Pro1199Leu
NM_001079817.1:c.3560C>T	NP_001073285.1:p.Pro1187Leu
NM_001079817.2:c.3560C>T	NP_001073285.1:p.Pro1187Leu
XM_011527988.1:c.3671C>T	XP_011526290.1:p.Pro1224Leu
XM_011527989.1:c.3635C>T	XP_011526291.1:p.Pro1212Leu
XM_011527988.2:c.3593C>T	XP_011526290.2:p.Pro1198Leu
XM_011527989.3:c.3557C>T	XP_011526291.2:p.Pro1186Leu
NM_000208.4:c.3596C>T MANE Select	NP_000199.2:p.Pro1199Leu
NM_001079817.3:c.3560C>T	NP_001073285.1:p.Pro1187Leu