Canonical Allele Identifier: CA412609578

Gene: POLA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.24888118C>T , CM000685.2:g.24888118C>T	GRCh38
NC_000023.10:g.24906235C>T , CM000685.1:g.24906235C>T	GRCh37
NC_000023.9:g.24816156C>T	NCBI36
NG_016798.1:g.199172C>T
NG_016798.2:g.199172C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001330360.2:c.4160C>T MANE Select	NP_001317289.1:p.Pro1387Leu
ENST00000379068.8:c.4160C>T MANE Select	ENSP00000368358.3:p.Pro1387Leu
NM_001330360.1:c.4160C>T	NP_001317289.1:p.Pro1387Leu
NM_001378303.1:c.4085C>T	NP_001365232.1:p.Pro1362Leu
NM_016937.3:c.4142C>T	NP_058633.2:p.Pro1381Leu
NM_016937.4:c.4142C>T	NP_058633.2:p.Pro1381Leu
NR_165482.1:n.3926C>T
NR_165483.1:n.4028C>T
ENST00000379059.7:c.4142C>T	ENSP00000368349.3:p.Pro1381Leu
ENST00000379068.7:c.4160C>T	ENSP00000368358.3:p.Pro1387Leu
ENST00000611764.1:c.4139C>T	ENSP00000478401.1:p.Pro1380Leu
ENST00000611764.2:n.4490C>T
ENST00000672178.1:c.*3591C>T	ENSP00000500742.1:n.*3591C>T
ENST00000679301.1:n.1417C>T
XM_005274552.2:c.4160C>T	XP_005274609.1:p.Pro1387Leu
XM_006724499.1:c.3734C>T	XP_006724562.1:p.Pro1245Leu
XM_006724499.2:c.3734C>T	XP_006724562.1:p.Pro1245Leu
XM_017029594.2:c.4160C>T	XP_016885083.1:p.Pro1387Leu
XM_017029595.2:c.4160C>T	XP_016885084.1:p.Pro1387Leu