Canonical Allele Identifier: CA367651084

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65557557A>C (hg19) ; chr7:g.66092570A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092570A>C , CM000669.2:g.66092570A>C	GRCh38
NC_000007.13:g.65557557A>C , CM000669.1:g.65557557A>C	GRCh37
NC_000007.12:g.65194992A>C	NCBI36
NG_009288.1:g.21782A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1157A>C MANE Select	ENSP00000307188.9:p.Gln386Pro
ENST00000362000.10:c.962A>C	ENSP00000354710.6:p.Gln321Pro
ENST00000380839.9:c.1079A>C	ENSP00000370219.4:p.Gln360Pro
ENST00000395331.4:c.1097A>C	ENSP00000378740.3:p.Gln366Pro
ENST00000395332.8:c.1157A>C	ENSP00000378741.3:p.Gln386Pro
ENST00000488343.2:c.148-334A>C	ENSP00000500864.1:n.148-334A>C
ENST00000672498.1:c.*456A>C	ENSP00000500227.1:n.*456A>C
ENST00000672586.1:n.1916A>C
ENST00000672676.1:n.2181A>C
ENST00000673149.1:n.969A>C
ENST00000673350.1:n.3274A>C
ENST00000673518.1:c.1079A>C	ENSP00000499889.1:p.Gln360Pro
ENST00000304874.13:c.1157A>C	ENSP00000307188.9:p.Gln386Pro
ENST00000380839.8:c.1079A>C	ENSP00000370219.4:p.Gln360Pro
ENST00000395331.3:c.1097A>C	ENSP00000378740.3:p.Gln366Pro
ENST00000395332.7:c.1157A>C	ENSP00000378741.3:p.Gln386Pro
ENST00000450043.2:c.470A>C	ENSP00000396527.2:p.Gln157Pro
ENST00000464970.1:n.360A>C
ENST00000488343.1:n.148-334A>C
ENST00000493708.5:n.638A>C
NM_000048.3:c.1157A>C	NP_000039.2:p.Gln386Pro
NM_001024943.1:c.1157A>C	NP_001020114.1:p.Gln386Pro
NM_001024944.1:c.1097A>C	NP_001020115.1:p.Gln366Pro
NM_001024946.1:c.1079A>C	NP_001020117.1:p.Gln360Pro
NM_000048.4:c.1157A>C MANE Select	NP_000039.2:p.Gln386Pro
NM_001024943.2:c.1157A>C	NP_001020114.1:p.Gln386Pro
NM_001024944.2:c.1097A>C	NP_001020115.1:p.Gln366Pro
NM_001024946.2:c.1079A>C	NP_001020117.1:p.Gln360Pro