Canonical Allele Identifier: CA367639537

Gene: ASL

Linked Data

• ClinVar Variation Id: 1512721
• ClinVar RCV Id: RCV002045721
• dbSNP Id: rs796051931
• MyVariant Identifiers: chr7:g.65548152G>C (hg19) ; chr7:g.66083165G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66083165G>C , CM000669.2:g.66083165G>C	GRCh38
NC_000007.13:g.65548152G>C , CM000669.1:g.65548152G>C	GRCh37
NC_000007.12:g.65185587G>C	NCBI36
NG_009288.1:g.12377G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.437G>C MANE Select	ENSP00000307188.9:p.Arg146Pro
ENST00000362000.10:c.242G>C	ENSP00000354710.6:p.Arg81Pro
ENST00000380839.9:c.437G>C	ENSP00000370219.4:p.Arg146Pro
ENST00000395331.4:c.437G>C	ENSP00000378740.3:p.Arg146Pro
ENST00000395332.8:c.437G>C	ENSP00000378741.3:p.Arg146Pro
ENST00000671817.1:c.437G>C	ENSP00000500462.1:p.Arg146Pro
ENST00000672498.1:c.437G>C	ENSP00000500227.1:p.Arg146Pro
ENST00000672586.1:n.342G>C
ENST00000672676.1:n.607G>C
ENST00000673149.1:n.249G>C
ENST00000673350.1:n.685G>C
ENST00000673518.1:c.437G>C	ENSP00000499889.1:p.Arg146Pro
ENST00000673594.1:n.286G>C
ENST00000304874.13:c.437G>C	ENSP00000307188.9:p.Arg146Pro
ENST00000362000.9:c.242G>C	ENSP00000354710.5:p.Arg81Pro
ENST00000380839.8:c.437G>C	ENSP00000370219.4:p.Arg146Pro
ENST00000395331.3:c.437G>C	ENSP00000378740.3:p.Arg146Pro
ENST00000395332.7:c.437G>C	ENSP00000378741.3:p.Arg146Pro
ENST00000487982.5:n.503G>C
ENST00000496336.1:n.818G>C
NM_000048.3:c.437G>C	NP_000039.2:p.Arg146Pro
NM_001024943.1:c.437G>C	NP_001020114.1:p.Arg146Pro
NM_001024944.1:c.437G>C	NP_001020115.1:p.Arg146Pro
NM_001024946.1:c.437G>C	NP_001020117.1:p.Arg146Pro
NM_000048.4:c.437G>C MANE Select	NP_000039.2:p.Arg146Pro
NM_001024943.2:c.437G>C	NP_001020114.1:p.Arg146Pro
NM_001024944.2:c.437G>C	NP_001020115.1:p.Arg146Pro
NM_001024946.2:c.437G>C	NP_001020117.1:p.Arg146Pro