Canonical Allele Identifier: CA455452056

Gene: ASL

Linked Data

• ClinVar Variation Id: 2770061
• ClinVar RCV Id: RCV003499409
• gnomAD v4: 7-66092772-C-T
• MyVariant Identifiers: chr7:g.65557759C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092772C>T , CM000669.2:g.66092772C>T	GRCh38
NC_000007.13:g.65557759C>T , CM000669.1:g.65557759C>T	GRCh37
NC_000007.12:g.65195194C>T	NCBI36
NG_009288.1:g.21984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1255C>T MANE Select	ENSP00000307188.9:p.Leu419=
ENST00000362000.10:c.1060C>T	ENSP00000354710.6:p.Leu354=
ENST00000380839.9:c.1177C>T	ENSP00000370219.4:p.Leu393=
ENST00000395331.4:c.1195C>T	ENSP00000378740.3:p.Leu399=
ENST00000395332.8:c.1255C>T	ENSP00000378741.3:p.Leu419=
ENST00000488343.2:c.148-132C>T	ENSP00000500864.1:n.148-132C>T
ENST00000672498.1:c.*658C>T	ENSP00000500227.1:n.*658C>T
ENST00000672586.1:n.2014C>T
ENST00000672676.1:n.2279C>T
ENST00000673149.1:n.1067C>T
ENST00000673350.1:n.3372C>T
ENST00000673518.1:c.1177C>T	ENSP00000499889.1:p.Leu393=
ENST00000304874.13:c.1255C>T	ENSP00000307188.9:p.Leu419=
ENST00000380839.8:c.1177C>T	ENSP00000370219.4:p.Leu393=
ENST00000395331.3:c.1195C>T	ENSP00000378740.3:p.Leu399=
ENST00000395332.7:c.1255C>T	ENSP00000378741.3:p.Leu419=
ENST00000450043.2:c.563+109C>T	ENSP00000396527.2:n.563+109C>T
ENST00000464970.1:n.458C>T
ENST00000488343.1:n.148-132C>T
ENST00000493708.5:n.736C>T
NM_000048.3:c.1255C>T	NP_000039.2:p.Leu419=
NM_001024943.1:c.1255C>T	NP_001020114.1:p.Leu419=
NM_001024944.1:c.1195C>T	NP_001020115.1:p.Leu399=
NM_001024946.1:c.1177C>T	NP_001020117.1:p.Leu393=
NM_000048.4:c.1255C>T MANE Select	NP_000039.2:p.Leu419=
NM_001024943.2:c.1255C>T	NP_001020114.1:p.Leu419=
NM_001024944.2:c.1195C>T	NP_001020115.1:p.Leu399=
NM_001024946.2:c.1177C>T	NP_001020117.1:p.Leu393=