Canonical Allele Identifier: CA403669680

Gene: INSR

Linked Data

• dbSNP Id: rs1329014300
• gnomAD v2: 19-7184355-G-C
• gnomAD v4: 19-7184344-G-C
• MyVariant Identifiers: chr19:g.7184355G>C (hg19) ; chr19:g.7184344G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7184344G>C , CM000681.2:g.7184344G>C	GRCh38
NC_000019.9:g.7184355G>C , CM000681.1:g.7184355G>C	GRCh37
NC_000019.8:g.7135355G>C	NCBI36
NG_008852.2:g.114657C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.946C>G MANE Select	ENSP00000303830.4:p.Pro316Ala
ENST00000302850.9:c.946C>G	ENSP00000303830.4:p.Pro316Ala
ENST00000341500.9:c.946C>G	ENSP00000342838.4:p.Pro316Ala
ENST00000598216.1:n.921C>G
NM_000208.2:c.946C>G	NP_000199.2:p.Pro316Ala
NM_000208.3:c.946C>G	NP_000199.2:p.Pro316Ala
NM_001079817.1:c.946C>G	NP_001073285.1:p.Pro316Ala
NM_001079817.2:c.946C>G	NP_001073285.1:p.Pro316Ala
XM_011527988.1:c.1024C>G	XP_011526290.1:p.Pro342Ala
XM_011527989.1:c.1024C>G	XP_011526291.1:p.Pro342Ala
XM_011527988.2:c.946C>G	XP_011526290.2:p.Pro316Ala
XM_011527989.3:c.946C>G	XP_011526291.2:p.Pro316Ala
NM_000208.4:c.946C>G MANE Select	NP_000199.2:p.Pro316Ala
NM_001079817.3:c.946C>G	NP_001073285.1:p.Pro316Ala