Canonical Allele Identifier: CA370429339

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918917G>C (hg19) ; chr8:g.18061408G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061408G>C , CM000670.2:g.18061408G>C	GRCh38
NC_000008.10:g.17918917G>C , CM000670.1:g.17918917G>C	GRCh37
NC_000008.9:g.17963197G>C	NCBI36
NG_008985.1:g.28591C>G
NG_008985.2:g.28591C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.802C>G	ENSP00000371152.4:p.Leu268Val
ENST00000517409.2:n.722C>G
ENST00000518746.2:n.2440C>G
ENST00000519545.6:n.771C>G
ENST00000520781.6:c.679C>G	ENSP00000427751.1:p.Leu227Val
ENST00000521542.2:n.62C>G
ENST00000635756.1:c.167C>G
ENST00000635944.1:c.*590C>G	ENSP00000490195.1:n.*590C>G
ENST00000635998.1:c.754C>G	ENSP00000490506.1:p.Leu252Val
ENST00000636009.1:c.611C>G	ENSP00000489988.1:n.611C>G
ENST00000636033.1:c.*590C>G	ENSP00000489617.1:n.*590C>G
ENST00000636050.1:c.*597C>G	ENSP00000490562.1:n.*597C>G
ENST00000636128.1:c.433C>G	ENSP00000489789.1:p.Leu145Val
ENST00000636160.1:c.*646C>G	ENSP00000489651.1:n.*646C>G
ENST00000636171.1:c.697C>G	ENSP00000489761.1:p.Leu233Val
ENST00000636455.1:c.802C>G	ENSP00000490502.1:p.Leu268Val
ENST00000636494.1:c.*534C>G	ENSP00000490388.1:n.*534C>G
ENST00000636563.1:n.416C>G
ENST00000636577.1:c.694C>G	ENSP00000490027.1:p.Leu232Val
ENST00000636691.1:c.559C>G	ENSP00000490725.1:p.Leu187Val
ENST00000636701.1:c.*405C>G	ENSP00000489800.1:n.*405C>G
ENST00000636815.1:c.671C>G
ENST00000636920.1:c.*590C>G	ENSP00000490437.1:n.*590C>G
ENST00000636997.1:c.667C>G	ENSP00000490093.1:p.Leu223Val
ENST00000637013.1:c.*1122C>G	ENSP00000490596.1:n.*1122C>G
ENST00000637014.1:n.1161C>G
ENST00000637095.1:c.*534C>G	ENSP00000490415.1:n.*534C>G
ENST00000637244.1:c.*1272C>G	ENSP00000490188.1:n.*1272C>G
ENST00000637343.1:n.2191C>G
ENST00000637429.1:c.*966C>G	ENSP00000490522.1:n.*966C>G
ENST00000637484.1:c.*716C>G	ENSP00000490837.1:n.*716C>G
ENST00000637528.1:c.691C>G	ENSP00000490801.1:p.Leu231Val
ENST00000637609.1:n.3475C>G
ENST00000637636.1:c.748C>G	ENSP00000490112.1:p.Leu250Val
ENST00000637790.2:c.754C>G MANE Select	ENSP00000490272.1:p.Leu252Val
ENST00000637857.1:n.1120C>G
ENST00000637922.1:c.559C>G	ENSP00000490071.1:p.Leu187Val
ENST00000637991.1:c.727C>G	ENSP00000489901.1:p.Leu243Val
ENST00000638028.1:n.971C>G
ENST00000638069.1:n.1575C>G
ENST00000262097.10:c.754C>G	ENSP00000262097.6:p.Leu252Val
ENST00000314146.10:c.736C>G	ENSP00000326970.10:p.Leu246Val
ENST00000381733.8:c.802C>G	ENSP00000371152.4:p.Leu268Val
ENST00000518746.1:n.571C>G
ENST00000519468.5:n.583C>G
ENST00000520781.5:c.679C>G	ENSP00000427751.1:p.Leu227Val
ENST00000521542.1:n.467C>G
NM_001127505.1:c.736C>G	NP_001120977.1:p.Leu246Val
NM_001127505.2:c.736C>G	NP_001120977.1:p.Leu246Val
NM_004315.4:c.802C>G	NP_004306.3:p.Leu268Val
NM_004315.5:c.802C>G	NP_004306.3:p.Leu268Val
NM_177924.3:c.754C>G	NP_808592.2:p.Leu252Val
NM_177924.4:c.754C>G	NP_808592.2:p.Leu252Val
XM_005273504.2:c.688C>G	XP_005273561.1:p.Leu230Val
NM_001363743.1:c.559C>G	NP_001350672.1:p.Leu187Val
XM_005273504.3:c.688C>G	XP_005273561.1:p.Leu230Val
NM_177924.5:c.754C>G MANE Select	NP_808592.2:p.Leu252Val
NM_001127505.3:c.736C>G	NP_001120977.1:p.Leu246Val
NM_001363743.2:c.559C>G	NP_001350672.1:p.Leu187Val
NM_004315.6:c.802C>G	NP_004306.3:p.Leu268Val