Canonical Allele Identifier: CA304648024

Gene: INSR

Linked Data

• dbSNP Id: rs929761465
• gnomAD v4: 19-7267642-C-G
• MyVariant Identifiers: chr19:g.7267653C>G (hg19) ; chr19:g.7267642C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7267642C>G , CM000681.2:g.7267642C>G	GRCh38
NC_000019.9:g.7267653C>G , CM000681.1:g.7267653C>G	GRCh37
NC_000019.8:g.7218653C>G	NCBI36
NG_008852.2:g.31359G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.355G>C MANE Select	ENSP00000303830.4:p.Ala119Pro
ENST00000302850.9:c.355G>C	ENSP00000303830.4:p.Ala119Pro
ENST00000341500.9:c.355G>C	ENSP00000342838.4:p.Ala119Pro
ENST00000598216.1:n.330G>C
NM_000208.2:c.355G>C	NP_000199.2:p.Ala119Pro
NM_000208.3:c.355G>C	NP_000199.2:p.Ala119Pro
NM_001079817.1:c.355G>C	NP_001073285.1:p.Ala119Pro
NM_001079817.2:c.355G>C	NP_001073285.1:p.Ala119Pro
XM_011527988.1:c.433G>C	XP_011526290.1:p.Ala145Pro
XM_011527989.1:c.433G>C	XP_011526291.1:p.Ala145Pro
XM_011527988.2:c.355G>C	XP_011526290.2:p.Ala119Pro
XM_011527989.3:c.355G>C	XP_011526291.2:p.Ala119Pro
NM_000208.4:c.355G>C MANE Select	NP_000199.2:p.Ala119Pro
NM_001079817.3:c.355G>C	NP_001073285.1:p.Ala119Pro