Canonical Allele Identifier: CA508015

Gene: AGRN

Linked Data

• ClinVar Variation Id: 263158
• ClinVar RCV Id: RCV000243499 ; RCV000430046 ; RCV000557729
• dbSNP Id: rs138031468
• ExAC: 1:977028 G / T
• gnomAD v2: 1-977028-G-T
• gnomAD v3: 1-1041648-G-T
• gnomAD v4: 1-1041648-G-T
• MyVariant Identifiers: chr1:g.977028G>T (hg19) ; chr1:g.1041648G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1041648G>T , CM000663.2:g.1041648G>T	GRCh38
NC_000001.10:g.977028G>T , CM000663.1:g.977028G>T	GRCh37
NC_000001.9:g.966891G>T	NCBI36
NG_016346.1:g.26526G>T , LRG_198:g.26526G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1123G>T MANE Select	ENSP00000368678.2:p.Ala375Ser
ENST00000651234.1:c.808G>T	ENSP00000499046.1:p.Ala270Ser
ENST00000652369.1:c.808G>T	ENSP00000498543.1:p.Ala270Ser
ENST00000379370.6:c.1123G>T	ENSP00000368678.2:p.Ala375Ser
ENST00000620552.4:c.709G>T	ENSP00000484607.1:p.Ala237Ser
NM_001305275.1:c.1123G>T	NP_001292204.1:p.Ala375Ser
NM_198576.3:c.1123G>T	NP_940978.2:p.Ala375Ser
XM_005244749.2:c.1123G>T	XP_005244806.1:p.Ala375Ser
XM_006710635.2:c.1123G>T	XP_006710698.1:p.Ala375Ser
XM_011541429.1:c.1123G>T	XP_011539731.1:p.Ala375Ser
XM_011541430.1:c.512-1591G>T	XP_011539732.1:n.512-1591G>T
XR_946650.1:n.1190G>T
NM_001364727.1:c.808G>T	NP_001351656.1:p.Ala270Ser
XM_005244749.3:c.1123G>T	XP_005244806.1:p.Ala375Ser
XM_011541429.2:c.1123G>T	XP_011539731.1:p.Ala375Ser
XR_946650.2:n.1194G>T
NM_001305275.2:c.1123G>T	NP_001292204.1:p.Ala375Ser
NM_198576.4:c.1123G>T MANE Select	NP_940978.2:p.Ala375Ser
NM_001364727.2:c.808G>T	NP_001351656.1:p.Ala270Ser