Canonical Allele Identifier: CA367653488

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65557850A>T (hg19) ; chr7:g.66092863A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092863A>T , CM000669.2:g.66092863A>T	GRCh38
NC_000007.13:g.65557850A>T , CM000669.1:g.65557850A>T	GRCh37
NC_000007.12:g.65195285A>T	NCBI36
NG_009288.1:g.22075A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1346A>T MANE Select	ENSP00000307188.9:p.Asp449Val
ENST00000362000.10:c.1151A>T	ENSP00000354710.6:p.Asp384Val
ENST00000380839.9:c.1268A>T	ENSP00000370219.4:p.Asp423Val
ENST00000395331.4:c.1286A>T	ENSP00000378740.3:p.Asp429Val
ENST00000395332.8:c.1346A>T	ENSP00000378741.3:p.Asp449Val
ENST00000488343.2:c.148-41A>T	ENSP00000500864.1:n.148-41A>T
ENST00000672498.1:c.*749A>T	ENSP00000500227.1:n.*749A>T
ENST00000672586.1:n.2105A>T
ENST00000672676.1:n.2370A>T
ENST00000673149.1:n.1158A>T
ENST00000673350.1:n.3463A>T
ENST00000673518.1:c.1268A>T	ENSP00000499889.1:p.Asp423Val
ENST00000304874.13:c.1346A>T	ENSP00000307188.9:p.Asp449Val
ENST00000380839.8:c.1268A>T	ENSP00000370219.4:p.Asp423Val
ENST00000395331.3:c.1286A>T	ENSP00000378740.3:p.Asp429Val
ENST00000395332.7:c.1346A>T	ENSP00000378741.3:p.Asp449Val
ENST00000450043.2:c.563+200A>T	ENSP00000396527.2:n.563+200A>T
ENST00000464970.1:n.549A>T
ENST00000488343.1:n.148-41A>T
ENST00000493708.5:n.827A>T
NM_000048.3:c.1346A>T	NP_000039.2:p.Asp449Val
NM_001024943.1:c.1346A>T	NP_001020114.1:p.Asp449Val
NM_001024944.1:c.1286A>T	NP_001020115.1:p.Asp429Val
NM_001024946.1:c.1268A>T	NP_001020117.1:p.Asp423Val
NM_000048.4:c.1346A>T MANE Select	NP_000039.2:p.Asp449Val
NM_001024943.2:c.1346A>T	NP_001020114.1:p.Asp449Val
NM_001024944.2:c.1286A>T	NP_001020115.1:p.Asp429Val
NM_001024946.2:c.1268A>T	NP_001020117.1:p.Asp423Val