Canonical Allele Identifier: CA370429449

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918949A>G (hg19) ; chr8:g.18061440A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061440A>G , CM000670.2:g.18061440A>G	GRCh38
NC_000008.10:g.17918949A>G , CM000670.1:g.17918949A>G	GRCh37
NC_000008.9:g.17963229A>G	NCBI36
NG_008985.1:g.28559T>C
NG_008985.2:g.28559T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.770T>C	ENSP00000371152.4:p.Leu257Pro
ENST00000517409.2:n.690T>C
ENST00000518746.2:n.2408T>C
ENST00000519545.6:n.739T>C
ENST00000520781.6:c.647T>C	ENSP00000427751.1:p.Leu216Pro
ENST00000521542.2:n.30T>C
ENST00000635756.1:c.135T>C
ENST00000635944.1:c.*558T>C	ENSP00000490195.1:n.*558T>C
ENST00000635998.1:c.722T>C	ENSP00000490506.1:p.Leu241Pro
ENST00000636009.1:c.579T>C	ENSP00000489988.1:n.579T>C
ENST00000636033.1:c.*558T>C	ENSP00000489617.1:n.*558T>C
ENST00000636050.1:c.*565T>C	ENSP00000490562.1:n.*565T>C
ENST00000636128.1:c.401T>C	ENSP00000489789.1:p.Leu134Pro
ENST00000636160.1:c.*614T>C	ENSP00000489651.1:n.*614T>C
ENST00000636171.1:c.665T>C	ENSP00000489761.1:p.Leu222Pro
ENST00000636455.1:c.770T>C	ENSP00000490502.1:p.Leu257Pro
ENST00000636494.1:c.*502T>C	ENSP00000490388.1:n.*502T>C
ENST00000636563.1:n.384T>C
ENST00000636577.1:c.662T>C	ENSP00000490027.1:p.Leu221Pro
ENST00000636691.1:c.527T>C	ENSP00000490725.1:p.Leu176Pro
ENST00000636701.1:c.*373T>C	ENSP00000489800.1:n.*373T>C
ENST00000636815.1:c.639T>C
ENST00000636920.1:c.*558T>C	ENSP00000490437.1:n.*558T>C
ENST00000636997.1:c.635T>C	ENSP00000490093.1:p.Leu212Pro
ENST00000637013.1:c.*1090T>C	ENSP00000490596.1:n.*1090T>C
ENST00000637014.1:n.1129T>C
ENST00000637095.1:c.*502T>C	ENSP00000490415.1:n.*502T>C
ENST00000637244.1:c.*1240T>C	ENSP00000490188.1:n.*1240T>C
ENST00000637343.1:n.2159T>C
ENST00000637429.1:c.*934T>C	ENSP00000490522.1:n.*934T>C
ENST00000637484.1:c.*684T>C	ENSP00000490837.1:n.*684T>C
ENST00000637528.1:c.659T>C	ENSP00000490801.1:p.Leu220Pro
ENST00000637609.1:n.3443T>C
ENST00000637636.1:c.716T>C	ENSP00000490112.1:p.Leu239Pro
ENST00000637790.2:c.722T>C MANE Select	ENSP00000490272.1:p.Leu241Pro
ENST00000637857.1:n.1088T>C
ENST00000637922.1:c.527T>C	ENSP00000490071.1:p.Leu176Pro
ENST00000637991.1:c.695T>C	ENSP00000489901.1:p.Leu232Pro
ENST00000638028.1:n.939T>C
ENST00000638069.1:n.1543T>C
ENST00000262097.10:c.722T>C	ENSP00000262097.6:p.Leu241Pro
ENST00000314146.10:c.704T>C	ENSP00000326970.10:p.Leu235Pro
ENST00000381733.8:c.770T>C	ENSP00000371152.4:p.Leu257Pro
ENST00000518746.1:n.539T>C
ENST00000519468.5:n.551T>C
ENST00000520781.5:c.647T>C	ENSP00000427751.1:p.Leu216Pro
ENST00000521542.1:n.435T>C
NM_001127505.1:c.704T>C	NP_001120977.1:p.Leu235Pro
NM_001127505.2:c.704T>C	NP_001120977.1:p.Leu235Pro
NM_004315.4:c.770T>C	NP_004306.3:p.Leu257Pro
NM_004315.5:c.770T>C	NP_004306.3:p.Leu257Pro
NM_177924.3:c.722T>C	NP_808592.2:p.Leu241Pro
NM_177924.4:c.722T>C	NP_808592.2:p.Leu241Pro
XM_005273504.2:c.656T>C	XP_005273561.1:p.Leu219Pro
NM_001363743.1:c.527T>C	NP_001350672.1:p.Leu176Pro
XM_005273504.3:c.656T>C	XP_005273561.1:p.Leu219Pro
NM_177924.5:c.722T>C MANE Select	NP_808592.2:p.Leu241Pro
NM_001127505.3:c.704T>C	NP_001120977.1:p.Leu235Pro
NM_001363743.2:c.527T>C	NP_001350672.1:p.Leu176Pro
NM_004315.6:c.770T>C	NP_004306.3:p.Leu257Pro