Canonical Allele Identifier: CA341558964

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171281T>A (hg19) ; chr1:g.109628659T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628659T>A , CM000663.2:g.109628659T>A	GRCh38
NC_000001.10:g.110171281T>A , CM000663.1:g.110171281T>A	GRCh37
NC_000001.9:g.109972804T>A	NCBI36
NG_034075.1:g.13847T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1424T>A	ENSP00000256578.4:p.Leu475Gln
ENST00000358729.9:c.1424T>A	ENSP00000351573.5:p.Leu475Gln
ENST00000369840.7:c.1424T>A	ENSP00000358855.3:p.Leu475Gln
ENST00000474459.6:n.2043T>A
ENST00000476688.3:c.1106T>A	ENSP00000437025.2:p.Leu369Gln
ENST00000486282.7:n.2380T>A
ENST00000524975.2:n.1905T>A
ENST00000525415.2:n.1940T>A
ENST00000526301.6:n.1487T>A
ENST00000527846.7:n.1279T>A
ENST00000528667.7:c.1424T>A MANE Select	ENSP00000436541.2:p.Leu475Gln
ENST00000531203.6:c.1232T>A	ENSP00000431975.2:p.Leu411Gln
ENST00000531734.6:c.1343T>A	ENSP00000433739.2:p.Leu448Gln
ENST00000652975.2:c.*1176T>A	ENSP00000499620.2:n.*1176T>A
ENST00000654851.1:n.1266T>A
ENST00000655992.1:c.1232T>A	ENSP00000499740.1:p.Leu411Gln
ENST00000659122.2:c.1407+164T>A	ENSP00000499621.2:n.1407+164T>A
ENST00000663749.1:c.*1171T>A	ENSP00000499739.1:n.*1171T>A
ENST00000667949.2:c.824T>A	ENSP00000499465.2:p.Leu275Gln
ENST00000668421.1:c.*1365T>A	ENSP00000499362.1:n.*1365T>A
ENST00000679379.1:c.*1176T>A	ENSP00000505528.1:n.*1176T>A
ENST00000679593.1:c.1424T>A	ENSP00000505999.1:p.Leu475Gln
ENST00000679880.1:n.1960T>A
ENST00000679892.1:c.*1192T>A	ENSP00000504882.1:n.*1192T>A
ENST00000679981.1:c.*1438T>A	ENSP00000506422.1:n.*1438T>A
ENST00000680132.1:c.*1374T>A	ENSP00000505950.1:n.*1374T>A
ENST00000680148.1:c.*1176T>A	ENSP00000505994.1:n.*1176T>A
ENST00000680170.1:n.2289T>A
ENST00000680192.1:n.2382T>A
ENST00000680519.1:n.1660T>A
ENST00000680531.1:c.*1171T>A	ENSP00000506332.1:n.*1171T>A
ENST00000680820.1:c.*1176T>A	ENSP00000505735.1:n.*1176T>A
ENST00000680832.1:c.*1524T>A	ENSP00000505774.1:n.*1524T>A
ENST00000680929.1:c.*1113T>A	ENSP00000504916.1:n.*1113T>A
ENST00000681108.1:c.*1245+164T>A	ENSP00000506701.1:n.*1245+164T>A
ENST00000681121.1:c.*534T>A	ENSP00000506466.1:n.*534T>A
ENST00000681132.1:c.*1190T>A	ENSP00000506195.1:n.*1190T>A
ENST00000681181.1:c.*1409T>A	ENSP00000506038.1:n.*1409T>A
ENST00000681218.1:c.*1697T>A	ENSP00000505976.1:n.*1697T>A
ENST00000681246.1:c.*1080T>A	ENSP00000505534.1:n.*1080T>A
ENST00000681496.1:c.*1697T>A	ENSP00000505948.1:n.*1697T>A
ENST00000681834.1:n.1763T>A
ENST00000681862.1:c.*1550T>A	ENSP00000505537.1:n.*1550T>A
ENST00000256578.7:c.1586T>A	ENSP00000256578.3:p.Leu529Gln
ENST00000342115.8:c.1343T>A	ENSP00000345498.4:p.Leu448Gln
ENST00000358729.8:c.1361T>A	ENSP00000351573.4:p.Leu454Gln
ENST00000369840.6:c.1497T>A
ENST00000393688.7:c.1229T>A	ENSP00000377292.3:p.Leu410Gln
ENST00000526301.5:n.1625T>A
ENST00000528454.5:c.1232T>A	ENSP00000437164.1:p.Leu411Gln
ENST00000528667.5:c.1586T>A	ENSP00000436541.1:p.Leu529Gln
ENST00000532851.1:n.134T>A
ENST00000533132.1:n.126T>A
NM_001257360.1:c.1586T>A	NP_001244289.1:p.Leu529Gln
NM_001257361.1:c.1232T>A	NP_001244290.1:p.Leu411Gln
NM_001308170.1:c.1361T>A	NP_001295099.1:p.Leu454Gln
NM_004037.7:c.1586T>A	NP_004028.3:p.Leu529Gln
NM_139156.3:c.1343T>A	NP_631895.1:p.Leu448Gln
NM_203404.1:c.1229T>A	NP_981949.1:p.Leu410Gln
XM_011541247.1:c.1799T>A	XP_011539549.1:p.Leu600Gln
XM_011541248.1:c.1782+164T>A	XP_011539550.1:n.1782+164T>A
XR_946607.1:n.1822T>A
XM_024446431.1:c.1361T>A	XP_024302199.1:p.Leu454Gln
XM_024446432.1:c.1430+164T>A	XP_024302200.1:n.1430+164T>A
XR_002956282.1:n.1997T>A
NM_001257360.2:c.1586T>A	NP_001244289.1:p.Leu529Gln
NM_001368809.2:c.1424T>A MANE Select	NP_001355738.1:p.Leu475Gln
NM_004037.9:c.1424T>A	NP_004028.4:p.Leu475Gln
NM_001257361.2:c.1232T>A	NP_001244290.1:p.Leu411Gln
NM_139156.4:c.1343T>A	NP_631895.1:p.Leu448Gln