Canonical Allele Identifier: CA367646437

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65554297C>G (hg19) ; chr7:g.66089310C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089310C>G , CM000669.2:g.66089310C>G	GRCh38
NC_000007.13:g.65554297C>G , CM000669.1:g.65554297C>G	GRCh37
NC_000007.12:g.65191732C>G	NCBI36
NG_009288.1:g.18522C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.953C>G MANE Select	ENSP00000307188.9:p.Pro318Arg
ENST00000362000.10:c.758C>G	ENSP00000354710.6:p.Pro253Arg
ENST00000380839.9:c.875C>G	ENSP00000370219.4:p.Pro292Arg
ENST00000395331.4:c.918+135C>G	ENSP00000378740.3:n.918+135C>G
ENST00000395332.8:c.953C>G	ENSP00000378741.3:p.Pro318Arg
ENST00000488343.2:c.122C>G	ENSP00000500864.1:p.Pro41Arg
ENST00000671817.1:c.875C>G	ENSP00000500462.1:p.Pro292Arg
ENST00000672498.1:c.*252C>G	ENSP00000500227.1:n.*252C>G
ENST00000672586.1:n.1712C>G
ENST00000672676.1:n.1977C>G
ENST00000673149.1:n.765C>G
ENST00000673350.1:n.3070C>G
ENST00000673518.1:c.875C>G	ENSP00000499889.1:p.Pro292Arg
ENST00000304874.13:c.953C>G	ENSP00000307188.9:p.Pro318Arg
ENST00000380839.8:c.875C>G	ENSP00000370219.4:p.Pro292Arg
ENST00000395331.3:c.918+135C>G	ENSP00000378740.3:n.918+135C>G
ENST00000395332.7:c.953C>G	ENSP00000378741.3:p.Pro318Arg
ENST00000450043.2:c.266C>G	ENSP00000396527.2:p.Pro89Arg
ENST00000464970.1:n.72C>G
ENST00000488343.1:n.122C>G
ENST00000493708.5:n.434C>G
NM_000048.3:c.953C>G	NP_000039.2:p.Pro318Arg
NM_001024943.1:c.953C>G	NP_001020114.1:p.Pro318Arg
NM_001024944.1:c.918+135C>G	NP_001020115.1:n.918+135C>G
NM_001024946.1:c.875C>G	NP_001020117.1:p.Pro292Arg
NM_000048.4:c.953C>G MANE Select	NP_000039.2:p.Pro318Arg
NM_001024943.2:c.953C>G	NP_001020114.1:p.Pro318Arg
NM_001024944.2:c.918+135C>G	NP_001020115.1:n.918+135C>G
NM_001024946.2:c.875C>G	NP_001020117.1:p.Pro292Arg