Canonical Allele Identifier: CA10588921

Gene: AGL

Linked Data

• ClinVar Variation Id: 265986
• ClinVar RCV Id: RCV000256372
• dbSNP Id: rs886039873
• MyVariant Identifiers: chr1:g.100336063T>C (hg19) ; chr1:g.99870507T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99870507T>C , CM000663.2:g.99870507T>C	GRCh38
NC_000001.10:g.100336063T>C , CM000663.1:g.100336063T>C	GRCh37
NC_000001.9:g.100108651T>C	NCBI36
NG_012865.1:g.25424T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.772T>C MANE Select	ENSP00000355106.3:p.Ser258Pro
ENST00000637337.1:n.983T>C
ENST00000294724.8:c.772T>C	ENSP00000294724.4:p.Ser258Pro
ENST00000361302.7:c.724T>C	ENSP00000354971.3:p.Ser242Pro
ENST00000361522.4:c.721T>C	ENSP00000354635.4:p.Ser241Pro
ENST00000361915.7:c.772T>C	ENSP00000355106.3:p.Ser258Pro
ENST00000370161.6:c.724T>C	ENSP00000359180.2:p.Ser242Pro
ENST00000370163.7:c.772T>C	ENSP00000359182.3:p.Ser258Pro
ENST00000370165.7:c.772T>C	ENSP00000359184.3:p.Ser258Pro
NM_000028.2:c.772T>C	NP_000019.2:p.Ser258Pro
NM_000642.2:c.772T>C	NP_000633.2:p.Ser258Pro
NM_000643.2:c.772T>C	NP_000634.2:p.Ser258Pro
NM_000644.2:c.772T>C	NP_000635.2:p.Ser258Pro
NM_000645.2:c.721T>C	NP_000636.2:p.Ser241Pro
NM_000646.2:c.724T>C	NP_000637.2:p.Ser242Pro
XM_005270557.1:c.772T>C	XP_005270614.1:p.Ser258Pro
XM_005270557.2:c.772T>C	XP_005270614.1:p.Ser258Pro
NM_000642.3:c.772T>C MANE Select	NP_000633.2:p.Ser258Pro