Canonical Allele Identifier: CA337853218

Gene: AGRN

Linked Data

• dbSNP Id: rs2100669042
• gnomAD v4: 1-1048239-C-T
• MyVariant Identifiers: chr1:g.983619C>T (hg19) ; chr1:g.1048239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048239C>T , CM000663.2:g.1048239C>T	GRCh38
NC_000001.10:g.983619C>T , CM000663.1:g.983619C>T	GRCh37
NC_000001.9:g.973482C>T	NCBI36
NG_016346.1:g.33117C>T , LRG_198:g.33117C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3979C>T MANE Select	ENSP00000368678.2:p.Gln1327Ter
ENST00000651234.1:c.3664C>T	ENSP00000499046.1:p.Gln1222Ter
ENST00000652369.1:c.3664C>T	ENSP00000498543.1:p.Gln1222Ter
ENST00000379370.6:c.3979C>T	ENSP00000368678.2:p.Gln1327Ter
ENST00000620552.4:c.3565C>T	ENSP00000484607.1:p.Gln1189Ter
NM_001305275.1:c.3979C>T	NP_001292204.1:p.Gln1327Ter
NM_198576.3:c.3979C>T	NP_940978.2:p.Gln1327Ter
XM_005244749.2:c.3979C>T	XP_005244806.1:p.Gln1327Ter
XM_006710635.2:c.3979C>T	XP_006710698.1:p.Gln1327Ter
XM_011541429.1:c.3979C>T	XP_011539731.1:p.Gln1327Ter
XM_011541430.1:c.3106C>T	XP_011539732.1:p.Gln1036Ter
XM_011541431.1:c.2245C>T	XP_011539733.1:p.Gln749Ter
XR_946650.1:n.4046C>T
NM_001364727.1:c.3664C>T	NP_001351656.1:p.Gln1222Ter
XM_005244749.3:c.3979C>T	XP_005244806.1:p.Gln1327Ter
XM_011541429.2:c.3979C>T	XP_011539731.1:p.Gln1327Ter
XR_946650.2:n.4050C>T
NM_001305275.2:c.3979C>T	NP_001292204.1:p.Gln1327Ter
NM_198576.4:c.3979C>T MANE Select	NP_940978.2:p.Gln1327Ter
NM_001364727.2:c.3664C>T	NP_001351656.1:p.Gln1222Ter