Canonical Allele Identifier: CA337778845

Gene: AGRN

Linked Data

• gnomAD v4: 1-1049697-G-T
• COSMIC: COSM5010455
• MyVariant Identifiers: chr1:g.985077G>T (hg19) ; chr1:g.1049697G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1049697G>T , CM000663.2:g.1049697G>T	GRCh38
NC_000001.10:g.985077G>T , CM000663.1:g.985077G>T	GRCh37
NC_000001.9:g.974940G>T	NCBI36
NG_016346.1:g.34575G>T , LRG_198:g.34575G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4646G>T MANE Select	ENSP00000368678.2:p.Gly1549Val
ENST00000651234.1:c.4331G>T	ENSP00000499046.1:p.Gly1444Val
ENST00000652369.1:c.4331G>T	ENSP00000498543.1:p.Gly1444Val
ENST00000379370.6:c.4646G>T	ENSP00000368678.2:p.Gly1549Val
ENST00000620552.4:c.4232G>T	ENSP00000484607.1:p.Gly1411Val
NM_001305275.1:c.4646G>T	NP_001292204.1:p.Gly1549Val
NM_198576.3:c.4646G>T	NP_940978.2:p.Gly1549Val
XM_005244749.2:c.4646G>T	XP_005244806.1:p.Gly1549Val
XM_006710635.2:c.4646G>T	XP_006710698.1:p.Gly1549Val
XM_011541429.1:c.4646G>T	XP_011539731.1:p.Gly1549Val
XM_011541430.1:c.3773G>T	XP_011539732.1:p.Gly1258Val
XM_011541431.1:c.2912G>T	XP_011539733.1:p.Gly971Val
XR_946650.1:n.4713G>T
NM_001364727.1:c.4331G>T	NP_001351656.1:p.Gly1444Val
XM_005244749.3:c.4646G>T	XP_005244806.1:p.Gly1549Val
XM_011541429.2:c.4646G>T	XP_011539731.1:p.Gly1549Val
XR_946650.2:n.4717G>T
NM_001305275.2:c.4646G>T	NP_001292204.1:p.Gly1549Val
NM_198576.4:c.4646G>T MANE Select	NP_940978.2:p.Gly1549Val
NM_001364727.2:c.4331G>T	NP_001351656.1:p.Gly1444Val