Canonical Allele Identifier: CA341324958

Gene: AGL

Linked Data

• ClinVar Variation Id: 2175920
• ClinVar RCV Id: RCV002602483
• dbSNP Id: rs1169515359
• gnomAD v2: 1-100356805-C-T
• gnomAD v3: 1-99891249-C-T
• gnomAD v4: 1-99891249-C-T
• MyVariant Identifiers: chr1:g.100356805C>T (hg19) ; chr1:g.99891249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99891249C>T , CM000663.2:g.99891249C>T	GRCh38
NC_000001.10:g.100356805C>T , CM000663.1:g.100356805C>T	GRCh37
NC_000001.9:g.100129393C>T	NCBI36
NG_012865.1:g.46166C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.2842C>T MANE Select	ENSP00000355106.3:p.Pro948Ser
ENST00000637337.1:n.3053C>T
ENST00000294724.8:c.2842C>T	ENSP00000294724.4:p.Pro948Ser
ENST00000361302.7:c.2794C>T	ENSP00000354971.3:p.Pro932Ser
ENST00000361522.4:c.2791C>T	ENSP00000354635.4:p.Pro931Ser
ENST00000361915.7:c.2842C>T	ENSP00000355106.3:p.Pro948Ser
ENST00000370161.6:c.2794C>T	ENSP00000359180.2:p.Pro932Ser
ENST00000370163.7:c.2842C>T	ENSP00000359182.3:p.Pro948Ser
ENST00000370165.7:c.2842C>T	ENSP00000359184.3:p.Pro948Ser
NM_000028.2:c.2842C>T	NP_000019.2:p.Pro948Ser
NM_000642.2:c.2842C>T	NP_000633.2:p.Pro948Ser
NM_000643.2:c.2842C>T	NP_000634.2:p.Pro948Ser
NM_000644.2:c.2842C>T	NP_000635.2:p.Pro948Ser
NM_000645.2:c.2791C>T	NP_000636.2:p.Pro931Ser
NM_000646.2:c.2794C>T	NP_000637.2:p.Pro932Ser
XM_005270557.1:c.2842C>T	XP_005270614.1:p.Pro948Ser
XM_005270557.2:c.2842C>T	XP_005270614.1:p.Pro948Ser
XM_017000501.2:c.1102C>T	XP_016855990.1:p.Pro368Ser
NM_000642.3:c.2842C>T MANE Select	NP_000633.2:p.Pro948Ser