Canonical Allele Identifier: CA341748457

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220025G>C (hg19) ; chr1:g.114677404G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677404G>C , CM000663.2:g.114677404G>C	GRCh38
NC_000001.10:g.115220025G>C , CM000663.1:g.115220025G>C	GRCh37
NC_000001.9:g.115021548G>C	NCBI36
NG_008012.1:g.23152C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1323C>G	ENSP00000358551.4:p.Cys441Trp
ENST00000520113.7:c.1335C>G MANE Select	ENSP00000430075.3:p.Cys445Trp
ENST00000637080.1:c.1118C>G	ENSP00000489753.1:n.1118C>G
ENST00000639077.1:n.1000C>G
ENST00000369538.3:c.1422C>G	ENSP00000358551.3:p.Cys474Trp
ENST00000520113.6:c.1434C>G	ENSP00000430075.2:p.Cys478Trp
NM_000036.2:c.1434C>G	NP_000027.2:p.Cys478Trp
NM_001172626.1:c.1422C>G	NP_001166097.1:p.Cys474Trp
NM_000036.3:c.1335C>G MANE Select	NP_000027.3:p.Cys445Trp
NM_001172626.2:c.1323C>G	NP_001166097.2:p.Cys441Trp