Canonical Allele Identifier: CA16754309

Gene: AGRN

Linked Data

• dbSNP Id: rs943222540
• gnomAD v3: 1-1043826-C-T
• gnomAD v4: 1-1043826-C-T
• MyVariant Identifiers: chr1:g.979206C>T (hg19) ; chr1:g.1043826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043826C>T , CM000663.2:g.1043826C>T	GRCh38
NC_000001.10:g.979206C>T , CM000663.1:g.979206C>T	GRCh37
NC_000001.9:g.969069C>T	NCBI36
NG_016346.1:g.28704C>T , LRG_198:g.28704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1802C>T MANE Select	ENSP00000368678.2:p.Thr601Ile
ENST00000651234.1:c.1487C>T	ENSP00000499046.1:p.Thr496Ile
ENST00000652369.1:c.1487C>T	ENSP00000498543.1:p.Thr496Ile
ENST00000379370.6:c.1802C>T	ENSP00000368678.2:p.Thr601Ile
ENST00000620552.4:c.1388C>T	ENSP00000484607.1:p.Thr463Ile
NM_001305275.1:c.1802C>T	NP_001292204.1:p.Thr601Ile
NM_198576.3:c.1802C>T	NP_940978.2:p.Thr601Ile
XM_005244749.2:c.1802C>T	XP_005244806.1:p.Thr601Ile
XM_006710635.2:c.1802C>T	XP_006710698.1:p.Thr601Ile
XM_011541429.1:c.1802C>T	XP_011539731.1:p.Thr601Ile
XM_011541430.1:c.929C>T	XP_011539732.1:p.Thr310Ile
XM_011541431.1:c.68C>T	XP_011539733.1:p.Thr23Ile
XR_946650.1:n.1869C>T
NM_001364727.1:c.1487C>T	NP_001351656.1:p.Thr496Ile
XM_005244749.3:c.1802C>T	XP_005244806.1:p.Thr601Ile
XM_011541429.2:c.1802C>T	XP_011539731.1:p.Thr601Ile
XR_946650.2:n.1873C>T
NM_001305275.2:c.1802C>T	NP_001292204.1:p.Thr601Ile
NM_198576.4:c.1802C>T MANE Select	NP_940978.2:p.Thr601Ile
NM_001364727.2:c.1487C>T	NP_001351656.1:p.Thr496Ile