Canonical Allele Identifier: CA367645569

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65554123G>C (hg19) ; chr7:g.66089136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089136G>C , CM000669.2:g.66089136G>C	GRCh38
NC_000007.13:g.65554123G>C , CM000669.1:g.65554123G>C	GRCh37
NC_000007.12:g.65191558G>C	NCBI36
NG_009288.1:g.18348G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.879G>C MANE Select	ENSP00000307188.9:p.Leu293Phe
ENST00000362000.10:c.684G>C	ENSP00000354710.6:p.Leu228Phe
ENST00000380839.9:c.801G>C	ENSP00000370219.4:p.Leu267Phe
ENST00000395331.4:c.879G>C	ENSP00000378740.3:p.Leu293Phe
ENST00000395332.8:c.879G>C	ENSP00000378741.3:p.Leu293Phe
ENST00000488343.2:c.48G>C	ENSP00000500864.1:p.Leu16Phe
ENST00000671817.1:c.801G>C	ENSP00000500462.1:p.Leu267Phe
ENST00000672498.1:c.*178G>C	ENSP00000500227.1:n.*178G>C
ENST00000672586.1:n.1638G>C
ENST00000672676.1:n.1903G>C
ENST00000673149.1:n.691G>C
ENST00000673350.1:n.2996G>C
ENST00000673518.1:c.801G>C	ENSP00000499889.1:p.Leu267Phe
ENST00000304874.13:c.879G>C	ENSP00000307188.9:p.Leu293Phe
ENST00000362000.9:c.684G>C	ENSP00000354710.5:p.Leu228Phe
ENST00000380839.8:c.801G>C	ENSP00000370219.4:p.Leu267Phe
ENST00000395331.3:c.879G>C	ENSP00000378740.3:p.Leu293Phe
ENST00000395332.7:c.879G>C	ENSP00000378741.3:p.Leu293Phe
ENST00000450043.2:c.192G>C	ENSP00000396527.2:p.Leu64Phe
ENST00000488343.1:n.48G>C
ENST00000493708.5:n.260G>C
NM_000048.3:c.879G>C	NP_000039.2:p.Leu293Phe
NM_001024943.1:c.879G>C	NP_001020114.1:p.Leu293Phe
NM_001024944.1:c.879G>C	NP_001020115.1:p.Leu293Phe
NM_001024946.1:c.801G>C	NP_001020117.1:p.Leu267Phe
NM_000048.4:c.879G>C MANE Select	NP_000039.2:p.Leu293Phe
NM_001024943.2:c.879G>C	NP_001020114.1:p.Leu293Phe
NM_001024944.2:c.879G>C	NP_001020115.1:p.Leu293Phe
NM_001024946.2:c.801G>C	NP_001020117.1:p.Leu267Phe