Canonical Allele Identifier: CA341342512

Gene: AGL

Linked Data

• ClinVar Variation Id: 1371140
• ClinVar RCV Id: RCV001878851
• dbSNP Id: rs2100876196
• MyVariant Identifiers: chr1:g.100382210G>C (hg19) ; chr1:g.99916654G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99916654G>C , CM000663.2:g.99916654G>C	GRCh38
NC_000001.10:g.100382210G>C , CM000663.1:g.100382210G>C	GRCh37
NC_000001.9:g.100154798G>C	NCBI36
NG_012865.1:g.71571G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4404G>C MANE Select	ENSP00000355106.3:p.Leu1468Phe
ENST00000637337.1:n.4615G>C
ENST00000294724.8:c.4404G>C	ENSP00000294724.4:p.Leu1468Phe
ENST00000361302.7:c.4356G>C	ENSP00000354971.3:p.Leu1452Phe
ENST00000361522.4:c.4353G>C	ENSP00000354635.4:p.Leu1451Phe
ENST00000361915.7:c.4404G>C	ENSP00000355106.3:p.Leu1468Phe
ENST00000370161.6:c.4356G>C	ENSP00000359180.2:p.Leu1452Phe
ENST00000370163.7:c.4404G>C	ENSP00000359182.3:p.Leu1468Phe
ENST00000370165.7:c.4404G>C	ENSP00000359184.3:p.Leu1468Phe
NM_000028.2:c.4404G>C	NP_000019.2:p.Leu1468Phe
NM_000642.2:c.4404G>C	NP_000633.2:p.Leu1468Phe
NM_000643.2:c.4404G>C	NP_000634.2:p.Leu1468Phe
NM_000644.2:c.4404G>C	NP_000635.2:p.Leu1468Phe
NM_000645.2:c.4353G>C	NP_000636.2:p.Leu1451Phe
NM_000646.2:c.4356G>C	NP_000637.2:p.Leu1452Phe
XM_005270557.1:c.4404G>C	XP_005270614.1:p.Leu1468Phe
XR_947626.1:n.1318-3437C>G
XR_947627.1:n.1207-3437C>G
XR_947628.1:n.1312-3437C>G
XR_947630.1:n.1250-3437C>G
XR_947632.1:n.1136-3437C>G
XR_947633.1:n.1247-3437C>G
XR_947634.1:n.661-3437C>G
XR_947635.1:n.729-3437C>G
XM_005270557.2:c.4404G>C	XP_005270614.1:p.Leu1468Phe
XM_017000501.2:c.2664G>C	XP_016855990.1:p.Leu888Phe
NM_000642.3:c.4404G>C MANE Select	NP_000633.2:p.Leu1468Phe