Canonical Allele Identifier: CA367645473

Gene: ASL

Linked Data

• gnomAD v4: 7-66089107-A-C
• MyVariant Identifiers: chr7:g.65554094A>C (hg19) ; chr7:g.66089107A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089107A>C , CM000669.2:g.66089107A>C	GRCh38
NC_000007.13:g.65554094A>C , CM000669.1:g.65554094A>C	GRCh37
NC_000007.12:g.65191529A>C	NCBI36
NG_009288.1:g.18319A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.850A>C MANE Select	ENSP00000307188.9:p.Met284Leu
ENST00000362000.10:c.655A>C	ENSP00000354710.6:p.Met219Leu
ENST00000380839.9:c.772A>C	ENSP00000370219.4:p.Met258Leu
ENST00000395331.4:c.850A>C	ENSP00000378740.3:p.Met284Leu
ENST00000395332.8:c.850A>C	ENSP00000378741.3:p.Met284Leu
ENST00000488343.2:c.19A>C	ENSP00000500864.1:p.Met7Leu
ENST00000671817.1:c.772A>C	ENSP00000500462.1:p.Met258Leu
ENST00000672498.1:c.*149A>C	ENSP00000500227.1:n.*149A>C
ENST00000672586.1:n.1609A>C
ENST00000672676.1:n.1874A>C
ENST00000673149.1:n.662A>C
ENST00000673350.1:n.2967A>C
ENST00000673518.1:c.772A>C	ENSP00000499889.1:p.Met258Leu
ENST00000304874.13:c.850A>C	ENSP00000307188.9:p.Met284Leu
ENST00000362000.9:c.655A>C	ENSP00000354710.5:p.Met219Leu
ENST00000380839.8:c.772A>C	ENSP00000370219.4:p.Met258Leu
ENST00000395331.3:c.850A>C	ENSP00000378740.3:p.Met284Leu
ENST00000395332.7:c.850A>C	ENSP00000378741.3:p.Met284Leu
ENST00000450043.2:c.163A>C	ENSP00000396527.2:p.Met55Leu
ENST00000488343.1:n.19A>C
ENST00000493708.5:n.231A>C
NM_000048.3:c.850A>C	NP_000039.2:p.Met284Leu
NM_001024943.1:c.850A>C	NP_001020114.1:p.Met284Leu
NM_001024944.1:c.850A>C	NP_001020115.1:p.Met284Leu
NM_001024946.1:c.772A>C	NP_001020117.1:p.Met258Leu
NM_000048.4:c.850A>C MANE Select	NP_000039.2:p.Met284Leu
NM_001024943.2:c.850A>C	NP_001020114.1:p.Met284Leu
NM_001024944.2:c.850A>C	NP_001020115.1:p.Met284Leu
NM_001024946.2:c.772A>C	NP_001020117.1:p.Met258Leu