Canonical Allele Identifier: CA4829100

Gene: PABPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100704305G>A , CM000670.2:g.100704305G>A	GRCh38
NC_000008.10:g.101716533G>A , CM000670.1:g.101716533G>A	GRCh37
NC_000008.9:g.101785709G>A	NCBI36
NG_027520.1:g.22783C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002568.4:c.1904C>T MANE Select	NP_002559.2:p.Thr635Ile
ENST00000318607.10:c.1904C>T MANE Select	ENSP00000313007.5:p.Thr635Ile
NM_002568.3:c.1904C>T	NP_002559.2:p.Thr635Ile
ENST00000318607.9:c.1904C>T	ENSP00000313007.5:p.Thr635Ile
ENST00000517990.5:c.404C>T	ENSP00000428030.1:p.Thr135Ile
ENST00000518293.5:c.121C>T
ENST00000519004.5:c.1769C>T	ENSP00000429594.1:p.Thr590Ile
ENST00000519100.6:c.1793C>T	ENSP00000427914.2:p.Thr598Ile
ENST00000520142.2:c.1904C>T	ENSP00000430012.2:p.Thr635Ile
ENST00000520804.2:c.1904C>T	ENSP00000428749.2:p.Thr635Ile
ENST00000520868.5:c.502C>T
ENST00000521865.6:c.1904C>T	ENSP00000429119.2:p.Thr635Ile
ENST00000522387.5:c.1808C>T	ENSP00000429395.1:p.Thr603Ile
ENST00000522658.5:c.545C>T	ENSP00000428840.1:p.Thr182Ile
ENST00000522658.6:c.1904C>T	ENSP00000428840.2:p.Thr635Ile
ENST00000522720.2:c.1904C>T	ENSP00000429790.2:p.Thr635Ile
ENST00000523555.6:c.1904C>T	ENSP00000429892.2:p.Thr635Ile
ENST00000523636.5:c.709C>T
ENST00000610907.1:c.1562C>T	ENSP00000478108.1:p.Thr521Ile
ENST00000610907.2:c.1760C>T	ENSP00000478108.2:p.Thr587Ile
ENST00000676655.1:n.1809C>T
ENST00000676662.1:c.1691C>T	ENSP00000503686.1:p.Thr564Ile
ENST00000676976.1:n.2425C>T
ENST00000677140.1:c.1895C>T	ENSP00000503044.1:p.Thr632Ile
ENST00000677285.1:n.324C>T
ENST00000677380.1:c.1691C>T	ENSP00000503421.1:p.Thr564Ile
ENST00000677478.1:c.1769C>T	ENSP00000504369.1:p.Thr590Ile
ENST00000677765.1:c.1727C>T	ENSP00000503838.1:p.Thr576Ile
ENST00000677775.1:n.2705C>T
ENST00000677787.1:c.1766C>T	ENSP00000504835.1:p.Thr589Ile
ENST00000677892.1:n.2112C>T
ENST00000678290.1:n.2180C>T
ENST00000678709.1:n.2078C>T
ENST00000678822.1:n.2063C>T
ENST00000678954.1:c.*2034C>T	ENSP00000503455.1:n.*2034C>T
ENST00000679197.1:c.1808C>T	ENSP00000503058.1:p.Thr603Ile
XM_005250861.2:c.1904C>T	XP_005250918.1:p.Thr635Ile
XM_005250861.3:c.1904C>T	XP_005250918.1:p.Thr635Ile