Canonical Allele Identifier: CA367646183

Gene: ASL

Linked Data

• ClinVar Variation Id: 2160276
• ClinVar RCV Id: RCV003087594
• gnomAD v4: 7-66089289-T-C
• MyVariant Identifiers: chr7:g.65554276T>C (hg19) ; chr7:g.66089289T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089289T>C , CM000669.2:g.66089289T>C	GRCh38
NC_000007.13:g.65554276T>C , CM000669.1:g.65554276T>C	GRCh37
NC_000007.12:g.65191711T>C	NCBI36
NG_009288.1:g.18501T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.932T>C MANE Select	ENSP00000307188.9:p.Leu311Pro
ENST00000362000.10:c.737T>C	ENSP00000354710.6:p.Leu246Pro
ENST00000380839.9:c.854T>C	ENSP00000370219.4:p.Leu285Pro
ENST00000395331.4:c.918+114T>C	ENSP00000378740.3:n.918+114T>C
ENST00000395332.8:c.932T>C	ENSP00000378741.3:p.Leu311Pro
ENST00000488343.2:c.101T>C	ENSP00000500864.1:p.Leu34Pro
ENST00000671817.1:c.854T>C	ENSP00000500462.1:p.Leu285Pro
ENST00000672498.1:c.*231T>C	ENSP00000500227.1:n.*231T>C
ENST00000672586.1:n.1691T>C
ENST00000672676.1:n.1956T>C
ENST00000673149.1:n.744T>C
ENST00000673350.1:n.3049T>C
ENST00000673518.1:c.854T>C	ENSP00000499889.1:p.Leu285Pro
ENST00000304874.13:c.932T>C	ENSP00000307188.9:p.Leu311Pro
ENST00000380839.8:c.854T>C	ENSP00000370219.4:p.Leu285Pro
ENST00000395331.3:c.918+114T>C	ENSP00000378740.3:n.918+114T>C
ENST00000395332.7:c.932T>C	ENSP00000378741.3:p.Leu311Pro
ENST00000450043.2:c.245T>C	ENSP00000396527.2:p.Leu82Pro
ENST00000464970.1:n.51T>C
ENST00000488343.1:n.101T>C
ENST00000493708.5:n.413T>C
NM_000048.3:c.932T>C	NP_000039.2:p.Leu311Pro
NM_001024943.1:c.932T>C	NP_001020114.1:p.Leu311Pro
NM_001024944.1:c.918+114T>C	NP_001020115.1:n.918+114T>C
NM_001024946.1:c.854T>C	NP_001020117.1:p.Leu285Pro
NM_000048.4:c.932T>C MANE Select	NP_000039.2:p.Leu311Pro
NM_001024943.2:c.932T>C	NP_001020114.1:p.Leu311Pro
NM_001024944.2:c.918+114T>C	NP_001020115.1:n.918+114T>C
NM_001024946.2:c.854T>C	NP_001020117.1:p.Leu285Pro