Canonical Allele Identifier: CA337779653

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1466251
• ClinVar RCV Id: RCV001963918
• dbSNP Id: rs2100681928
• gnomAD v4: 1-1050256-C-T
• MyVariant Identifiers: chr1:g.985636C>T (hg19) ; chr1:g.1050256C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050256C>T , CM000663.2:g.1050256C>T	GRCh38
NC_000001.10:g.985636C>T , CM000663.1:g.985636C>T	GRCh37
NC_000001.9:g.975499C>T	NCBI36
NG_016346.1:g.35134C>T , LRG_198:g.35134C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4903C>T MANE Select	ENSP00000368678.2:p.Pro1635Ser
ENST00000651234.1:c.4588C>T	ENSP00000499046.1:p.Pro1530Ser
ENST00000652369.1:c.4588C>T	ENSP00000498543.1:p.Pro1530Ser
ENST00000379370.6:c.4903C>T	ENSP00000368678.2:p.Pro1635Ser
ENST00000620552.4:c.4489C>T	ENSP00000484607.1:p.Pro1497Ser
NM_001305275.1:c.4903C>T	NP_001292204.1:p.Pro1635Ser
NM_198576.3:c.4903C>T	NP_940978.2:p.Pro1635Ser
XM_005244749.2:c.4903C>T	XP_005244806.1:p.Pro1635Ser
XM_006710635.2:c.4903C>T	XP_006710698.1:p.Pro1635Ser
XM_011541429.1:c.4903C>T	XP_011539731.1:p.Pro1635Ser
XM_011541430.1:c.4030C>T	XP_011539732.1:p.Pro1344Ser
XM_011541431.1:c.3169C>T	XP_011539733.1:p.Pro1057Ser
XR_946650.1:n.4970C>T
NM_001364727.1:c.4588C>T	NP_001351656.1:p.Pro1530Ser
XM_005244749.3:c.4903C>T	XP_005244806.1:p.Pro1635Ser
XM_011541429.2:c.4903C>T	XP_011539731.1:p.Pro1635Ser
XR_946650.2:n.4974C>T
NM_001305275.2:c.4903C>T	NP_001292204.1:p.Pro1635Ser
NM_198576.4:c.4903C>T MANE Select	NP_940978.2:p.Pro1635Ser
NM_001364727.2:c.4588C>T	NP_001351656.1:p.Pro1530Ser