Canonical Allele Identifier: CA357397894

Gene: PRDM8

Linked Data

• MyVariant Identifiers: chr4:g.81123659T>C (hg19) ; chr4:g.80202505T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80202505T>C , CM000666.2:g.80202505T>C	GRCh38
NC_000004.11:g.81123659T>C , CM000666.1:g.81123659T>C	GRCh37
NC_000004.10:g.81342683T>C	NCBI36
NG_046725.1:g.22236T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415738.3:c.1043T>C MANE Select	ENSP00000406998.2:p.Leu348Pro
ENST00000339711.8:c.1043T>C	ENSP00000339764.4:p.Leu348Pro
ENST00000415738.2:c.1043T>C	ENSP00000406998.2:p.Leu348Pro
ENST00000504452.5:c.1043T>C	ENSP00000423985.1:p.Leu348Pro
ENST00000515013.5:c.1043T>C	ENSP00000425149.1:p.Leu348Pro
NM_001099403.1:c.1043T>C	NP_001092873.1:p.Leu348Pro
NM_020226.3:c.1043T>C	NP_064611.3:p.Leu348Pro
XM_005263144.2:c.1046T>C	XP_005263201.1:p.Leu349Pro
XM_005263145.2:c.1046T>C	XP_005263202.1:p.Leu349Pro
XM_005263146.3:c.1043T>C	XP_005263203.1:p.Leu348Pro
XM_011532133.1:c.1886T>C	XP_011530435.1:p.Leu629Pro
XM_011532134.1:c.1883T>C	XP_011530436.1:p.Leu628Pro
XM_011532135.1:c.1745T>C	XP_011530437.1:p.Leu582Pro
XM_011532136.1:c.1598T>C	XP_011530438.1:p.Leu533Pro
XM_011532137.1:c.1598T>C	XP_011530439.1:p.Leu533Pro
XM_011532138.1:c.1598T>C	XP_011530440.1:p.Leu533Pro
XM_011532139.1:c.1598T>C	XP_011530441.1:p.Leu533Pro
XM_011532140.1:c.1598T>C	XP_011530442.1:p.Leu533Pro
XM_011532141.1:c.1460T>C	XP_011530443.1:p.Leu487Pro
XM_011532142.1:c.1439T>C	XP_011530444.1:p.Leu480Pro
XM_005263146.4:c.1043T>C	XP_005263203.1:p.Leu348Pro
XM_011532133.2:c.1886T>C	XP_011530435.1:p.Leu629Pro
XM_011532135.2:c.1745T>C	XP_011530437.1:p.Leu582Pro
XM_011532140.2:c.1598T>C	XP_011530442.1:p.Leu533Pro
XM_011532141.3:c.1460T>C	XP_011530443.1:p.Leu487Pro
XM_017008468.1:c.1595T>C	XP_016863957.1:p.Leu532Pro
XM_017008469.1:c.1682T>C	XP_016863958.1:p.Leu561Pro
XM_017008470.1:c.1598T>C	XP_016863959.1:p.Leu533Pro
NM_001099403.2:c.1043T>C MANE Select	NP_001092873.1:p.Leu348Pro
NM_020226.4:c.1043T>C	NP_064611.3:p.Leu348Pro