Canonical Allele Identifier: CA7912048

Gene: PARN

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.14554087A>G , CM000678.2:g.14554087A>G	GRCh38
NC_000016.9:g.14647944A>G , CM000678.1:g.14647944A>G	GRCh37
NC_000016.8:g.14555445A>G	NCBI36
NG_042871.1:g.81185T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697471.1:n.1834T>C
ENST00000697472.1:n.1424T>C
ENST00000697473.1:n.2985T>C
ENST00000697474.1:c.1383T>C	ENSP00000513329.1:p.Leu461=
ENST00000697475.1:n.1538T>C
ENST00000697476.1:n.1516T>C
ENST00000437198.7:c.1383T>C MANE Select	ENSP00000387911.2:p.Leu461=
ENST00000564113.6:n.1493T>C
ENST00000650960.1:c.1383T>C	ENSP00000499110.1:p.Leu461=
ENST00000650990.1:c.1458T>C	ENSP00000498741.1:p.Leu486=
ENST00000651027.1:c.1383T>C	ENSP00000498640.1:p.Leu461=
ENST00000651049.1:c.1383T>C	ENSP00000498644.1:p.Leu461=
ENST00000651300.1:c.*1212+1567T>C	ENSP00000498294.1:n.*1212+1567T>C
ENST00000651348.1:c.*454T>C	ENSP00000498315.1:n.*454T>C
ENST00000651634.1:c.1383T>C	ENSP00000499078.1:p.Leu461=
ENST00000651760.1:c.2571T>C
ENST00000651865.1:c.1308T>C	ENSP00000498567.1:p.Leu436=
ENST00000651913.1:c.1330T>C
ENST00000652051.1:c.*159T>C	ENSP00000498898.1:n.*159T>C
ENST00000652066.1:c.1163T>C
ENST00000652411.1:n.1540T>C
ENST00000652501.1:c.1383T>C	ENSP00000498261.1:p.Leu461=
ENST00000652541.1:c.*1215T>C	ENSP00000499206.1:n.*1215T>C
ENST00000652727.1:c.1231+1567T>C	ENSP00000498650.1:n.1231+1567T>C
ENST00000341484.11:c.1200T>C	ENSP00000345456.7:p.Leu400=
ENST00000420015.6:c.1245T>C	ENSP00000410525.2:p.Leu415=
ENST00000437198.6:c.1383T>C	ENSP00000387911.2:p.Leu461=
ENST00000539279.5:c.858T>C	ENSP00000444381.1:p.Leu286=
ENST00000564904.5:n.181T>C
NM_001134477.2:c.1200T>C	NP_001127949.1:p.Leu400=
NM_001242992.1:c.1245T>C	NP_001229921.1:p.Leu415=
NM_002582.3:c.1383T>C	NP_002573.1:p.Leu461=
XM_011522510.1:c.1383T>C	XP_011520812.1:p.Leu461=
XM_011522511.1:c.1383T>C	XP_011520813.1:p.Leu461=
XM_011522512.1:c.1318+1567T>C	XP_011520814.1:n.1318+1567T>C
XM_011522513.1:c.1200T>C	XP_011520815.1:p.Leu400=
NM_002582.4:c.1383T>C MANE Select	NP_002573.1:p.Leu461=
XM_011522510.3:c.1383T>C	XP_011520812.1:p.Leu461=
XM_011522511.2:c.1383T>C	XP_011520813.1:p.Leu461=
XM_011522513.2:c.1200T>C	XP_011520815.1:p.Leu400=
XM_017023258.2:c.1305T>C	XP_016878747.1:p.Leu435=
XM_017023259.2:c.546T>C	XP_016878748.1:p.Leu182=
XM_017023260.1:c.546T>C	XP_016878749.1:p.Leu182=
XM_024450292.1:c.546T>C	XP_024306060.1:p.Leu182=
XR_001751906.2:n.1500T>C
NM_001134477.3:c.1200T>C	NP_001127949.1:p.Leu400=
NM_001242992.2:c.1245T>C	NP_001229921.1:p.Leu415=