Canonical Allele Identifier: CA341752758

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226945T>G (hg19) ; chr1:g.114684324T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684324T>G , CM000663.2:g.114684324T>G	GRCh38
NC_000001.10:g.115226945T>G , CM000663.1:g.115226945T>G	GRCh37
NC_000001.9:g.115028468T>G	NCBI36
NG_008012.1:g.16232A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.410A>C	ENSP00000358551.4:p.Tyr137Ser
ENST00000520113.7:c.422A>C MANE Select	ENSP00000430075.3:p.Tyr141Ser
ENST00000637080.1:c.425A>C	ENSP00000489753.1:p.Tyr142Ser
ENST00000639077.1:n.87A>C
ENST00000369538.3:c.509A>C	ENSP00000358551.3:p.Tyr170Ser
ENST00000485564.3:n.296A>C
ENST00000520113.6:c.521A>C	ENSP00000430075.2:p.Tyr174Ser
NM_000036.2:c.521A>C	NP_000027.2:p.Tyr174Ser
NM_001172626.1:c.509A>C	NP_001166097.1:p.Tyr170Ser
NM_000036.3:c.422A>C MANE Select	NP_000027.3:p.Tyr141Ser
NM_001172626.2:c.410A>C	NP_001166097.2:p.Tyr137Ser