Canonical Allele Identifier: CA403671290

Gene: INSR

Linked Data

• dbSNP Id: rs1599874273
• gnomAD v4: 19-7125432-C-G
• MyVariant Identifiers: chr19:g.7125443C>G (hg19) ; chr19:g.7125432C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125432C>G , CM000681.2:g.7125432C>G	GRCh38
NC_000019.9:g.7125443C>G , CM000681.1:g.7125443C>G	GRCh37
NC_000019.8:g.7076443C>G	NCBI36
NG_008852.2:g.173569G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3109G>C MANE Select	ENSP00000303830.4:p.Val1037Leu
ENST00000302850.9:c.3109G>C	ENSP00000303830.4:p.Val1037Leu
ENST00000341500.9:c.3073G>C	ENSP00000342838.4:p.Val1025Leu
NM_000208.2:c.3109G>C	NP_000199.2:p.Val1037Leu
NM_000208.3:c.3109G>C	NP_000199.2:p.Val1037Leu
NM_001079817.1:c.3073G>C	NP_001073285.1:p.Val1025Leu
NM_001079817.2:c.3073G>C	NP_001073285.1:p.Val1025Leu
XM_011527988.1:c.3184G>C	XP_011526290.1:p.Val1062Leu
XM_011527989.1:c.3148G>C	XP_011526291.1:p.Val1050Leu
XM_011527988.2:c.3106G>C	XP_011526290.2:p.Val1036Leu
XM_011527989.3:c.3070G>C	XP_011526291.2:p.Val1024Leu
NM_000208.4:c.3109G>C MANE Select	NP_000199.2:p.Val1037Leu
NM_001079817.3:c.3073G>C	NP_001073285.1:p.Val1025Leu