Canonical Allele Identifier: CA367651071

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65557556C>A (hg19) ; chr7:g.66092569C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092569C>A , CM000669.2:g.66092569C>A	GRCh38
NC_000007.13:g.65557556C>A , CM000669.1:g.65557556C>A	GRCh37
NC_000007.12:g.65194991C>A	NCBI36
NG_009288.1:g.21781C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1156C>A MANE Select	ENSP00000307188.9:p.Gln386Lys
ENST00000362000.10:c.961C>A	ENSP00000354710.6:p.Gln321Lys
ENST00000380839.9:c.1078C>A	ENSP00000370219.4:p.Gln360Lys
ENST00000395331.4:c.1096C>A	ENSP00000378740.3:p.Gln366Lys
ENST00000395332.8:c.1156C>A	ENSP00000378741.3:p.Gln386Lys
ENST00000488343.2:c.148-335C>A	ENSP00000500864.1:n.148-335C>A
ENST00000672498.1:c.*455C>A	ENSP00000500227.1:n.*455C>A
ENST00000672586.1:n.1915C>A
ENST00000672676.1:n.2180C>A
ENST00000673149.1:n.968C>A
ENST00000673350.1:n.3273C>A
ENST00000673518.1:c.1078C>A	ENSP00000499889.1:p.Gln360Lys
ENST00000304874.13:c.1156C>A	ENSP00000307188.9:p.Gln386Lys
ENST00000380839.8:c.1078C>A	ENSP00000370219.4:p.Gln360Lys
ENST00000395331.3:c.1096C>A	ENSP00000378740.3:p.Gln366Lys
ENST00000395332.7:c.1156C>A	ENSP00000378741.3:p.Gln386Lys
ENST00000450043.2:c.469C>A	ENSP00000396527.2:p.Gln157Lys
ENST00000464970.1:n.359C>A
ENST00000488343.1:n.148-335C>A
ENST00000493708.5:n.637C>A
NM_000048.3:c.1156C>A	NP_000039.2:p.Gln386Lys
NM_001024943.1:c.1156C>A	NP_001020114.1:p.Gln386Lys
NM_001024944.1:c.1096C>A	NP_001020115.1:p.Gln366Lys
NM_001024946.1:c.1078C>A	NP_001020117.1:p.Gln360Lys
NM_000048.4:c.1156C>A MANE Select	NP_000039.2:p.Gln386Lys
NM_001024943.2:c.1156C>A	NP_001020114.1:p.Gln386Lys
NM_001024944.2:c.1096C>A	NP_001020115.1:p.Gln366Lys
NM_001024946.2:c.1078C>A	NP_001020117.1:p.Gln360Lys