Canonical Allele Identifier: CA341749997

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115222212A>C (hg19) ; chr1:g.114679591A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679591A>C , CM000663.2:g.114679591A>C	GRCh38
NC_000001.10:g.115222212A>C , CM000663.1:g.115222212A>C	GRCh37
NC_000001.9:g.115023735A>C	NCBI36
NG_008012.1:g.20965T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.873T>G	ENSP00000358551.4:p.Tyr291Ter
ENST00000520113.7:c.885T>G MANE Select	ENSP00000430075.3:p.Tyr295Ter
ENST00000637080.1:c.668T>G	ENSP00000489753.1:n.668T>G
ENST00000639077.1:n.550T>G
ENST00000369538.3:c.972T>G	ENSP00000358551.3:p.Tyr324Ter
ENST00000520113.6:c.984T>G	ENSP00000430075.2:p.Tyr328Ter
NM_000036.2:c.984T>G	NP_000027.2:p.Tyr328Ter
NM_001172626.1:c.972T>G	NP_001166097.1:p.Tyr324Ter
NM_000036.3:c.885T>G MANE Select	NP_000027.3:p.Tyr295Ter
NM_001172626.2:c.873T>G	NP_001166097.2:p.Tyr291Ter