Canonical Allele Identifier: CA455450603

Gene: ASL

Linked Data

• ClinVar Variation Id: 1158806
• ClinVar RCV Id: RCV001502355
• dbSNP Id: rs1562741433
• gnomAD v3: 7-66087733-C-T
• gnomAD v4: 7-66087733-C-T
• MyVariant Identifiers: chr7:g.65552720C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087733C>T , CM000669.2:g.66087733C>T	GRCh38
NC_000007.13:g.65552720C>T , CM000669.1:g.65552720C>T	GRCh37
NC_000007.12:g.65190155C>T	NCBI36
NG_009288.1:g.16945C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.660C>T MANE Select	ENSP00000307188.9:p.Leu220=
ENST00000362000.10:c.465C>T	ENSP00000354710.6:p.Leu155=
ENST00000380839.9:c.582C>T	ENSP00000370219.4:p.Leu194=
ENST00000395331.4:c.660C>T	ENSP00000378740.3:p.Leu220=
ENST00000395332.8:c.660C>T	ENSP00000378741.3:p.Leu220=
ENST00000671817.1:c.582C>T	ENSP00000500462.1:p.Leu194=
ENST00000672498.1:c.451C>T	ENSP00000500227.1:p.Gln151Ter
ENST00000672586.1:n.1419C>T
ENST00000672676.1:n.1684C>T
ENST00000673149.1:n.472C>T
ENST00000673350.1:n.1762C>T
ENST00000673518.1:c.582C>T	ENSP00000499889.1:p.Leu194=
ENST00000304874.13:c.660C>T	ENSP00000307188.9:p.Leu220=
ENST00000362000.9:c.465C>T	ENSP00000354710.5:p.Leu155=
ENST00000380839.8:c.582C>T	ENSP00000370219.4:p.Leu194=
ENST00000395331.3:c.660C>T	ENSP00000378740.3:p.Leu220=
ENST00000395332.7:c.660C>T	ENSP00000378741.3:p.Leu220=
ENST00000493708.5:n.41C>T
NM_000048.3:c.660C>T	NP_000039.2:p.Leu220=
NM_001024943.1:c.660C>T	NP_001020114.1:p.Leu220=
NM_001024944.1:c.660C>T	NP_001020115.1:p.Leu220=
NM_001024946.1:c.582C>T	NP_001020117.1:p.Leu194=
NM_000048.4:c.660C>T MANE Select	NP_000039.2:p.Leu220=
NM_001024943.2:c.660C>T	NP_001020114.1:p.Leu220=
NM_001024944.2:c.660C>T	NP_001020115.1:p.Leu220=
NM_001024946.2:c.582C>T	NP_001020117.1:p.Leu194=