Canonical Allele Identifier: CA4829180

Gene: PABPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100705591A>G , CM000670.2:g.100705591A>G	GRCh38
NC_000008.10:g.101717819A>G , CM000670.1:g.101717819A>G	GRCh37
NC_000008.9:g.101786995A>G	NCBI36
NG_027520.1:g.21497T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002568.4:c.1685T>C MANE Select	NP_002559.2:p.Leu562Ser
ENST00000318607.10:c.1685T>C MANE Select	ENSP00000313007.5:p.Leu562Ser
NM_002568.3:c.1685T>C	NP_002559.2:p.Leu562Ser
ENST00000318607.9:c.1685T>C	ENSP00000313007.5:p.Leu562Ser
ENST00000517990.5:c.212T>C	ENSP00000428030.1:p.Leu71Ser
ENST00000519004.5:c.1550T>C	ENSP00000429594.1:p.Leu517Ser
ENST00000519100.6:c.1574T>C	ENSP00000427914.2:p.Leu525Ser
ENST00000519848.1:n.543T>C
ENST00000520142.2:c.1685T>C	ENSP00000430012.2:p.Leu562Ser
ENST00000520804.2:c.1685T>C	ENSP00000428749.2:p.Leu562Ser
ENST00000520868.5:c.283T>C
ENST00000521865.6:c.1685T>C	ENSP00000429119.2:p.Leu562Ser
ENST00000522387.5:c.1589T>C	ENSP00000429395.1:p.Leu530Ser
ENST00000522658.5:c.326T>C	ENSP00000428840.1:p.Leu109Ser
ENST00000522658.6:c.1685T>C	ENSP00000428840.2:p.Leu562Ser
ENST00000522720.2:c.1685T>C	ENSP00000429790.2:p.Leu562Ser
ENST00000523555.6:c.1685T>C	ENSP00000429892.2:p.Leu562Ser
ENST00000523636.5:c.490T>C
ENST00000610907.1:c.1343T>C	ENSP00000478108.1:p.Leu448Ser
ENST00000610907.2:c.1541T>C	ENSP00000478108.2:p.Leu514Ser
ENST00000676655.1:n.1590T>C
ENST00000676662.1:c.1472T>C	ENSP00000503686.1:p.Leu491Ser
ENST00000676976.1:n.2206T>C
ENST00000677140.1:c.1676T>C	ENSP00000503044.1:p.Leu559Ser
ENST00000677285.1:n.105T>C
ENST00000677380.1:c.1472T>C	ENSP00000503421.1:p.Leu491Ser
ENST00000677478.1:c.1550T>C	ENSP00000504369.1:p.Leu517Ser
ENST00000677765.1:c.1508T>C	ENSP00000503838.1:p.Leu503Ser
ENST00000677775.1:n.2486T>C
ENST00000677787.1:c.1547T>C	ENSP00000504835.1:p.Leu516Ser
ENST00000677892.1:n.1893T>C
ENST00000678290.1:n.1961T>C
ENST00000678709.1:n.1859T>C
ENST00000678822.1:n.1844T>C
ENST00000678954.1:c.*1815T>C	ENSP00000503455.1:n.*1815T>C
ENST00000679197.1:c.1589T>C	ENSP00000503058.1:p.Leu530Ser
XM_005250861.2:c.1685T>C	XP_005250918.1:p.Leu562Ser
XM_005250861.3:c.1685T>C	XP_005250918.1:p.Leu562Ser