Canonical Allele Identifier: CA367646164

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65554275C>G (hg19) ; chr7:g.66089288C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089288C>G , CM000669.2:g.66089288C>G	GRCh38
NC_000007.13:g.65554275C>G , CM000669.1:g.65554275C>G	GRCh37
NC_000007.12:g.65191710C>G	NCBI36
NG_009288.1:g.18500C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.931C>G MANE Select	ENSP00000307188.9:p.Leu311Val
ENST00000362000.10:c.736C>G	ENSP00000354710.6:p.Leu246Val
ENST00000380839.9:c.853C>G	ENSP00000370219.4:p.Leu285Val
ENST00000395331.4:c.918+113C>G	ENSP00000378740.3:n.918+113C>G
ENST00000395332.8:c.931C>G	ENSP00000378741.3:p.Leu311Val
ENST00000488343.2:c.100C>G	ENSP00000500864.1:p.Leu34Val
ENST00000671817.1:c.853C>G	ENSP00000500462.1:p.Leu285Val
ENST00000672498.1:c.*230C>G	ENSP00000500227.1:n.*230C>G
ENST00000672586.1:n.1690C>G
ENST00000672676.1:n.1955C>G
ENST00000673149.1:n.743C>G
ENST00000673350.1:n.3048C>G
ENST00000673518.1:c.853C>G	ENSP00000499889.1:p.Leu285Val
ENST00000304874.13:c.931C>G	ENSP00000307188.9:p.Leu311Val
ENST00000380839.8:c.853C>G	ENSP00000370219.4:p.Leu285Val
ENST00000395331.3:c.918+113C>G	ENSP00000378740.3:n.918+113C>G
ENST00000395332.7:c.931C>G	ENSP00000378741.3:p.Leu311Val
ENST00000450043.2:c.244C>G	ENSP00000396527.2:p.Leu82Val
ENST00000464970.1:n.50C>G
ENST00000488343.1:n.100C>G
ENST00000493708.5:n.412C>G
NM_000048.3:c.931C>G	NP_000039.2:p.Leu311Val
NM_001024943.1:c.931C>G	NP_001020114.1:p.Leu311Val
NM_001024944.1:c.918+113C>G	NP_001020115.1:n.918+113C>G
NM_001024946.1:c.853C>G	NP_001020117.1:p.Leu285Val
NM_000048.4:c.931C>G MANE Select	NP_000039.2:p.Leu311Val
NM_001024943.2:c.931C>G	NP_001020114.1:p.Leu311Val
NM_001024944.2:c.918+113C>G	NP_001020115.1:n.918+113C>G
NM_001024946.2:c.853C>G	NP_001020117.1:p.Leu285Val