Canonical Allele Identifier: CA4277164

Gene: ASL

Linked Data

• ClinVar Variation Id: 1579122
• ClinVar RCV Id: RCV002083846
• dbSNP Id: rs764804216
• ExAC: 7:65554114 C / T
• gnomAD v2: 7-65554114-C-T
• gnomAD v4: 7-66089127-C-T
• MyVariant Identifiers: chr7:g.65554114C>T (hg19) ; chr7:g.66089127C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089127C>T , CM000669.2:g.66089127C>T	GRCh38
NC_000007.13:g.65554114C>T , CM000669.1:g.65554114C>T	GRCh37
NC_000007.12:g.65191549C>T	NCBI36
NG_009288.1:g.18339C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.870C>T MANE Select	ENSP00000307188.9:p.Pro290=
ENST00000362000.10:c.675C>T	ENSP00000354710.6:p.Pro225=
ENST00000380839.9:c.792C>T	ENSP00000370219.4:p.Pro264=
ENST00000395331.4:c.870C>T	ENSP00000378740.3:p.Pro290=
ENST00000395332.8:c.870C>T	ENSP00000378741.3:p.Pro290=
ENST00000488343.2:c.39C>T	ENSP00000500864.1:p.Pro13=
ENST00000671817.1:c.792C>T	ENSP00000500462.1:p.Pro264=
ENST00000672498.1:c.*169C>T	ENSP00000500227.1:n.*169C>T
ENST00000672586.1:n.1629C>T
ENST00000672676.1:n.1894C>T
ENST00000673149.1:n.682C>T
ENST00000673350.1:n.2987C>T
ENST00000673518.1:c.792C>T	ENSP00000499889.1:p.Pro264=
ENST00000304874.13:c.870C>T	ENSP00000307188.9:p.Pro290=
ENST00000362000.9:c.675C>T	ENSP00000354710.5:p.Pro225=
ENST00000380839.8:c.792C>T	ENSP00000370219.4:p.Pro264=
ENST00000395331.3:c.870C>T	ENSP00000378740.3:p.Pro290=
ENST00000395332.7:c.870C>T	ENSP00000378741.3:p.Pro290=
ENST00000450043.2:c.183C>T	ENSP00000396527.2:p.Pro61=
ENST00000488343.1:n.39C>T
ENST00000493708.5:n.251C>T
NM_000048.3:c.870C>T	NP_000039.2:p.Pro290=
NM_001024943.1:c.870C>T	NP_001020114.1:p.Pro290=
NM_001024944.1:c.870C>T	NP_001020115.1:p.Pro290=
NM_001024946.1:c.792C>T	NP_001020117.1:p.Pro264=
NM_000048.4:c.870C>T MANE Select	NP_000039.2:p.Pro290=
NM_001024943.2:c.870C>T	NP_001020114.1:p.Pro290=
NM_001024944.2:c.870C>T	NP_001020115.1:p.Pro290=
NM_001024946.2:c.792C>T	NP_001020117.1:p.Pro264=