Canonical Allele Identifier: CA367650129

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092023G>C , CM000669.2:g.66092023G>C	GRCh38
NC_000007.13:g.65557010G>C , CM000669.1:g.65557010G>C	GRCh37
NC_000007.12:g.65194445G>C	NCBI36
NG_009288.1:g.21235G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.1080G>C MANE Select	NP_000039.2:p.Met360Ile
ENST00000304874.14:c.1080G>C MANE Select	ENSP00000307188.9:p.Met360Ile
NM_000048.3:c.1080G>C	NP_000039.2:p.Met360Ile
NM_001024943.1:c.1080G>C	NP_001020114.1:p.Met360Ile
NM_001024943.2:c.1080G>C	NP_001020114.1:p.Met360Ile
NM_001024944.1:c.1020G>C	NP_001020115.1:p.Met340Ile
NM_001024944.2:c.1020G>C	NP_001020115.1:p.Met340Ile
NM_001024946.1:c.1002G>C	NP_001020117.1:p.Met334Ile
NM_001024946.2:c.1002G>C	NP_001020117.1:p.Met334Ile
ENST00000304874.13:c.1080G>C	ENSP00000307188.9:p.Met360Ile
ENST00000362000.10:c.885G>C	ENSP00000354710.6:p.Met295Ile
ENST00000380839.8:c.1002G>C	ENSP00000370219.4:p.Met334Ile
ENST00000380839.9:c.1002G>C	ENSP00000370219.4:p.Met334Ile
ENST00000395331.3:c.1020G>C	ENSP00000378740.3:p.Met340Ile
ENST00000395331.4:c.1020G>C	ENSP00000378740.3:p.Met340Ile
ENST00000395332.7:c.1080G>C	ENSP00000378741.3:p.Met360Ile
ENST00000395332.8:c.1080G>C	ENSP00000378741.3:p.Met360Ile
ENST00000450043.2:c.393G>C	ENSP00000396527.2:p.Met131Ile
ENST00000464970.1:n.283G>C
ENST00000488343.1:n.148-881G>C
ENST00000488343.2:c.148-881G>C	ENSP00000500864.1:n.148-881G>C
ENST00000493708.5:n.561G>C
ENST00000671817.1:c.1002G>C	ENSP00000500462.1:p.Met334Ile
ENST00000672498.1:c.*379G>C	ENSP00000500227.1:n.*379G>C
ENST00000672586.1:n.1839G>C
ENST00000672676.1:n.2104G>C
ENST00000673149.1:n.892G>C
ENST00000673350.1:n.3197G>C
ENST00000673518.1:c.1002G>C	ENSP00000499889.1:p.Met334Ile