Canonical Allele Identifier: CA341752243

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658243132
• MyVariant Identifiers: chr1:g.115226825T>C (hg19) ; chr1:g.114684204T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684204T>C , CM000663.2:g.114684204T>C	GRCh38
NC_000001.10:g.115226825T>C , CM000663.1:g.115226825T>C	GRCh37
NC_000001.9:g.115028348T>C	NCBI36
NG_008012.1:g.16352A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.530A>G	ENSP00000358551.4:p.Tyr177Cys
ENST00000520113.7:c.542A>G MANE Select	ENSP00000430075.3:p.Tyr181Cys
ENST00000637080.1:c.545A>G	ENSP00000489753.1:p.Tyr182Cys
ENST00000639077.1:n.207A>G
ENST00000369538.3:c.629A>G	ENSP00000358551.3:p.Tyr210Cys
ENST00000485564.3:n.416A>G
ENST00000520113.6:c.641A>G	ENSP00000430075.2:p.Tyr214Cys
NM_000036.2:c.641A>G	NP_000027.2:p.Tyr214Cys
NM_001172626.1:c.629A>G	NP_001166097.1:p.Tyr210Cys
NM_000036.3:c.542A>G MANE Select	NP_000027.3:p.Tyr181Cys
NM_001172626.2:c.530A>G	NP_001166097.2:p.Tyr177Cys