Canonical Allele Identifier: CA509282

Gene: AGRN

Linked Data

• ClinVar Variation Id: 1154584
• ClinVar RCV Id: RCV001496621
• dbSNP Id: rs775175131
• ExAC: 1:983576 C / T
• gnomAD v2: 1-983576-C-T
• gnomAD v3: 1-1048196-C-T
• gnomAD v4: 1-1048196-C-T
• MyVariant Identifiers: chr1:g.983576C>T (hg19) ; chr1:g.1048196C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048196C>T , CM000663.2:g.1048196C>T	GRCh38
NC_000001.10:g.983576C>T , CM000663.1:g.983576C>T	GRCh37
NC_000001.9:g.973439C>T	NCBI36
NG_016346.1:g.33074C>T , LRG_198:g.33074C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3936C>T MANE Select	ENSP00000368678.2:p.Thr1312=
ENST00000651234.1:c.3621C>T	ENSP00000499046.1:p.Thr1207=
ENST00000652369.1:c.3621C>T	ENSP00000498543.1:p.Thr1207=
ENST00000379370.6:c.3936C>T	ENSP00000368678.2:p.Thr1312=
ENST00000620552.4:c.3522C>T	ENSP00000484607.1:p.Thr1174=
NM_001305275.1:c.3936C>T	NP_001292204.1:p.Thr1312=
NM_198576.3:c.3936C>T	NP_940978.2:p.Thr1312=
XM_005244749.2:c.3936C>T	XP_005244806.1:p.Thr1312=
XM_006710635.2:c.3936C>T	XP_006710698.1:p.Thr1312=
XM_011541429.1:c.3936C>T	XP_011539731.1:p.Thr1312=
XM_011541430.1:c.3063C>T	XP_011539732.1:p.Thr1021=
XM_011541431.1:c.2202C>T	XP_011539733.1:p.Thr734=
XR_946650.1:n.4003C>T
NM_001364727.1:c.3621C>T	NP_001351656.1:p.Thr1207=
XM_005244749.3:c.3936C>T	XP_005244806.1:p.Thr1312=
XM_011541429.2:c.3936C>T	XP_011539731.1:p.Thr1312=
XR_946650.2:n.4007C>T
NM_001305275.2:c.3936C>T	NP_001292204.1:p.Thr1312=
NM_198576.4:c.3936C>T MANE Select	NP_940978.2:p.Thr1312=
NM_001364727.2:c.3621C>T	NP_001351656.1:p.Thr1207=