Canonical Allele Identifier: CA367650560

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65557060T>A (hg19) ; chr7:g.66092073T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092073T>A , CM000669.2:g.66092073T>A	GRCh38
NC_000007.13:g.65557060T>A , CM000669.1:g.65557060T>A	GRCh37
NC_000007.12:g.65194495T>A	NCBI36
NG_009288.1:g.21285T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1130T>A MANE Select	ENSP00000307188.9:p.Leu377Gln
ENST00000362000.10:c.935T>A	ENSP00000354710.6:p.Leu312Gln
ENST00000380839.9:c.1052T>A	ENSP00000370219.4:p.Leu351Gln
ENST00000395331.4:c.1070T>A	ENSP00000378740.3:p.Leu357Gln
ENST00000395332.8:c.1130T>A	ENSP00000378741.3:p.Leu377Gln
ENST00000488343.2:c.148-831T>A	ENSP00000500864.1:n.148-831T>A
ENST00000672498.1:c.*429T>A	ENSP00000500227.1:n.*429T>A
ENST00000672586.1:n.1889T>A
ENST00000672676.1:n.2154T>A
ENST00000673149.1:n.942T>A
ENST00000673350.1:n.3247T>A
ENST00000673518.1:c.1052T>A	ENSP00000499889.1:p.Leu351Gln
ENST00000304874.13:c.1130T>A	ENSP00000307188.9:p.Leu377Gln
ENST00000380839.8:c.1052T>A	ENSP00000370219.4:p.Leu351Gln
ENST00000395331.3:c.1070T>A	ENSP00000378740.3:p.Leu357Gln
ENST00000395332.7:c.1130T>A	ENSP00000378741.3:p.Leu377Gln
ENST00000450043.2:c.443T>A	ENSP00000396527.2:p.Leu148Gln
ENST00000464970.1:n.333T>A
ENST00000488343.1:n.148-831T>A
ENST00000493708.5:n.611T>A
NM_000048.3:c.1130T>A	NP_000039.2:p.Leu377Gln
NM_001024943.1:c.1130T>A	NP_001020114.1:p.Leu377Gln
NM_001024944.1:c.1070T>A	NP_001020115.1:p.Leu357Gln
NM_001024946.1:c.1052T>A	NP_001020117.1:p.Leu351Gln
NM_000048.4:c.1130T>A MANE Select	NP_000039.2:p.Leu377Gln
NM_001024943.2:c.1130T>A	NP_001020114.1:p.Leu377Gln
NM_001024944.2:c.1070T>A	NP_001020115.1:p.Leu357Gln
NM_001024946.2:c.1052T>A	NP_001020117.1:p.Leu351Gln