Canonical Allele Identifier: CA337779253

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1012127
• ClinVar RCV Id: RCV001310030
• dbSNP Id: rs1645221054
• gnomAD v4: 1-1049783-C-T
• MyVariant Identifiers: chr1:g.985163C>T (hg19) ; chr1:g.1049783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1049783C>T , CM000663.2:g.1049783C>T	GRCh38
NC_000001.10:g.985163C>T , CM000663.1:g.985163C>T	GRCh37
NC_000001.9:g.975026C>T	NCBI36
NG_016346.1:g.34661C>T , LRG_198:g.34661C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4732C>T MANE Select	ENSP00000368678.2:p.Pro1578Ser
ENST00000651234.1:c.4417C>T	ENSP00000499046.1:p.Pro1473Ser
ENST00000652369.1:c.4417C>T	ENSP00000498543.1:p.Pro1473Ser
ENST00000379370.6:c.4732C>T	ENSP00000368678.2:p.Pro1578Ser
ENST00000620552.4:c.4318C>T	ENSP00000484607.1:p.Pro1440Ser
NM_001305275.1:c.4732C>T	NP_001292204.1:p.Pro1578Ser
NM_198576.3:c.4732C>T	NP_940978.2:p.Pro1578Ser
XM_005244749.2:c.4732C>T	XP_005244806.1:p.Pro1578Ser
XM_006710635.2:c.4732C>T	XP_006710698.1:p.Pro1578Ser
XM_011541429.1:c.4732C>T	XP_011539731.1:p.Pro1578Ser
XM_011541430.1:c.3859C>T	XP_011539732.1:p.Pro1287Ser
XM_011541431.1:c.2998C>T	XP_011539733.1:p.Pro1000Ser
XR_946650.1:n.4799C>T
NM_001364727.1:c.4417C>T	NP_001351656.1:p.Pro1473Ser
XM_005244749.3:c.4732C>T	XP_005244806.1:p.Pro1578Ser
XM_011541429.2:c.4732C>T	XP_011539731.1:p.Pro1578Ser
XR_946650.2:n.4803C>T
NM_001305275.2:c.4732C>T	NP_001292204.1:p.Pro1578Ser
NM_198576.4:c.4732C>T MANE Select	NP_940978.2:p.Pro1578Ser
NM_001364727.2:c.4417C>T	NP_001351656.1:p.Pro1473Ser