Canonical Allele Identifier: CA367645505

Gene: ASL

Linked Data

• ClinVar Variation Id: 2731175
• ClinVar RCV Id: RCV003499799
• MyVariant Identifiers: chr7:g.65554101A>C (hg19) ; chr7:g.66089114A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089114A>C , CM000669.2:g.66089114A>C	GRCh38
NC_000007.13:g.65554101A>C , CM000669.1:g.65554101A>C	GRCh37
NC_000007.12:g.65191536A>C	NCBI36
NG_009288.1:g.18326A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.857A>C MANE Select	ENSP00000307188.9:p.Gln286Pro
ENST00000362000.10:c.662A>C	ENSP00000354710.6:p.Gln221Pro
ENST00000380839.9:c.779A>C	ENSP00000370219.4:p.Gln260Pro
ENST00000395331.4:c.857A>C	ENSP00000378740.3:p.Gln286Pro
ENST00000395332.8:c.857A>C	ENSP00000378741.3:p.Gln286Pro
ENST00000488343.2:c.26A>C	ENSP00000500864.1:p.Gln9Pro
ENST00000671817.1:c.779A>C	ENSP00000500462.1:p.Gln260Pro
ENST00000672498.1:c.*156A>C	ENSP00000500227.1:n.*156A>C
ENST00000672586.1:n.1616A>C
ENST00000672676.1:n.1881A>C
ENST00000673149.1:n.669A>C
ENST00000673350.1:n.2974A>C
ENST00000673518.1:c.779A>C	ENSP00000499889.1:p.Gln260Pro
ENST00000304874.13:c.857A>C	ENSP00000307188.9:p.Gln286Pro
ENST00000362000.9:c.662A>C	ENSP00000354710.5:p.Gln221Pro
ENST00000380839.8:c.779A>C	ENSP00000370219.4:p.Gln260Pro
ENST00000395331.3:c.857A>C	ENSP00000378740.3:p.Gln286Pro
ENST00000395332.7:c.857A>C	ENSP00000378741.3:p.Gln286Pro
ENST00000450043.2:c.170A>C	ENSP00000396527.2:p.Gln57Pro
ENST00000488343.1:n.26A>C
ENST00000493708.5:n.238A>C
NM_000048.3:c.857A>C	NP_000039.2:p.Gln286Pro
NM_001024943.1:c.857A>C	NP_001020114.1:p.Gln286Pro
NM_001024944.1:c.857A>C	NP_001020115.1:p.Gln286Pro
NM_001024946.1:c.779A>C	NP_001020117.1:p.Gln260Pro
NM_000048.4:c.857A>C MANE Select	NP_000039.2:p.Gln286Pro
NM_001024943.2:c.857A>C	NP_001020114.1:p.Gln286Pro
NM_001024944.2:c.857A>C	NP_001020115.1:p.Gln286Pro
NM_001024946.2:c.779A>C	NP_001020117.1:p.Gln260Pro