Canonical Allele Identifier: CA419883520

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658248483
• MyVariant Identifiers: chr1:g.115226932G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684311G>A , CM000663.2:g.114684311G>A	GRCh38
NC_000001.10:g.115226932G>A , CM000663.1:g.115226932G>A	GRCh37
NC_000001.9:g.115028455G>A	NCBI36
NG_008012.1:g.16245C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.423C>T	ENSP00000358551.4:p.Cys141=
ENST00000520113.7:c.435C>T MANE Select	ENSP00000430075.3:p.Cys145=
ENST00000637080.1:c.438C>T	ENSP00000489753.1:p.Cys146=
ENST00000639077.1:n.100C>T
ENST00000369538.3:c.522C>T	ENSP00000358551.3:p.Cys174=
ENST00000485564.3:n.309C>T
ENST00000520113.6:c.534C>T	ENSP00000430075.2:p.Cys178=
NM_000036.2:c.534C>T	NP_000027.2:p.Cys178=
NM_001172626.1:c.522C>T	NP_001166097.1:p.Cys174=
NM_000036.3:c.435C>T MANE Select	NP_000027.3:p.Cys145=
NM_001172626.2:c.423C>T	NP_001166097.2:p.Cys141=