Canonical Allele Identifier: CA367651216

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65557571T>C (hg19) ; chr7:g.66092584T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092584T>C , CM000669.2:g.66092584T>C	GRCh38
NC_000007.13:g.65557571T>C , CM000669.1:g.65557571T>C	GRCh37
NC_000007.12:g.65195006T>C	NCBI36
NG_009288.1:g.21796T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1171T>C MANE Select	ENSP00000307188.9:p.Ser391Pro
ENST00000362000.10:c.976T>C	ENSP00000354710.6:p.Ser326Pro
ENST00000380839.9:c.1093T>C	ENSP00000370219.4:p.Ser365Pro
ENST00000395331.4:c.1111T>C	ENSP00000378740.3:p.Ser371Pro
ENST00000395332.8:c.1171T>C	ENSP00000378741.3:p.Ser391Pro
ENST00000488343.2:c.148-320T>C	ENSP00000500864.1:n.148-320T>C
ENST00000672498.1:c.*470T>C	ENSP00000500227.1:n.*470T>C
ENST00000672586.1:n.1930T>C
ENST00000672676.1:n.2195T>C
ENST00000673149.1:n.983T>C
ENST00000673350.1:n.3288T>C
ENST00000673518.1:c.1093T>C	ENSP00000499889.1:p.Ser365Pro
ENST00000304874.13:c.1171T>C	ENSP00000307188.9:p.Ser391Pro
ENST00000380839.8:c.1093T>C	ENSP00000370219.4:p.Ser365Pro
ENST00000395331.3:c.1111T>C	ENSP00000378740.3:p.Ser371Pro
ENST00000395332.7:c.1171T>C	ENSP00000378741.3:p.Ser391Pro
ENST00000450043.2:c.484T>C	ENSP00000396527.2:p.Ser162Pro
ENST00000464970.1:n.374T>C
ENST00000488343.1:n.148-320T>C
ENST00000493708.5:n.652T>C
NM_000048.3:c.1171T>C	NP_000039.2:p.Ser391Pro
NM_001024943.1:c.1171T>C	NP_001020114.1:p.Ser391Pro
NM_001024944.1:c.1111T>C	NP_001020115.1:p.Ser371Pro
NM_001024946.1:c.1093T>C	NP_001020117.1:p.Ser365Pro
NM_000048.4:c.1171T>C MANE Select	NP_000039.2:p.Ser391Pro
NM_001024943.2:c.1171T>C	NP_001020114.1:p.Ser391Pro
NM_001024944.2:c.1111T>C	NP_001020115.1:p.Ser371Pro
NM_001024946.2:c.1093T>C	NP_001020117.1:p.Ser365Pro