Canonical Allele Identifier: CA455452044

Gene: ASL

Linked Data

• COSMIC: COSM3085777
• MyVariant Identifiers: chr7:g.65557758C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092771C>A , CM000669.2:g.66092771C>A	GRCh38
NC_000007.13:g.65557758C>A , CM000669.1:g.65557758C>A	GRCh37
NC_000007.12:g.65195193C>A	NCBI36
NG_009288.1:g.21983C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1254C>A MANE Select	ENSP00000307188.9:p.Pro418=
ENST00000362000.10:c.1059C>A	ENSP00000354710.6:p.Pro353=
ENST00000380839.9:c.1176C>A	ENSP00000370219.4:p.Pro392=
ENST00000395331.4:c.1194C>A	ENSP00000378740.3:p.Pro398=
ENST00000395332.8:c.1254C>A	ENSP00000378741.3:p.Pro418=
ENST00000488343.2:c.148-133C>A	ENSP00000500864.1:n.148-133C>A
ENST00000672498.1:c.*657C>A	ENSP00000500227.1:n.*657C>A
ENST00000672586.1:n.2013C>A
ENST00000672676.1:n.2278C>A
ENST00000673149.1:n.1066C>A
ENST00000673350.1:n.3371C>A
ENST00000673518.1:c.1176C>A	ENSP00000499889.1:p.Pro392=
ENST00000304874.13:c.1254C>A	ENSP00000307188.9:p.Pro418=
ENST00000380839.8:c.1176C>A	ENSP00000370219.4:p.Pro392=
ENST00000395331.3:c.1194C>A	ENSP00000378740.3:p.Pro398=
ENST00000395332.7:c.1254C>A	ENSP00000378741.3:p.Pro418=
ENST00000450043.2:c.563+108C>A	ENSP00000396527.2:n.563+108C>A
ENST00000464970.1:n.457C>A
ENST00000488343.1:n.148-133C>A
ENST00000493708.5:n.735C>A
NM_000048.3:c.1254C>A	NP_000039.2:p.Pro418=
NM_001024943.1:c.1254C>A	NP_001020114.1:p.Pro418=
NM_001024944.1:c.1194C>A	NP_001020115.1:p.Pro398=
NM_001024946.1:c.1176C>A	NP_001020117.1:p.Pro392=
NM_000048.4:c.1254C>A MANE Select	NP_000039.2:p.Pro418=
NM_001024943.2:c.1254C>A	NP_001020114.1:p.Pro418=
NM_001024944.2:c.1194C>A	NP_001020115.1:p.Pro398=
NM_001024946.2:c.1176C>A	NP_001020117.1:p.Pro392=