Canonical Allele Identifier: CA372291937

Gene: DNAAF11

Linked Data

• COSMIC: COSM4761568
• MyVariant Identifiers: chr8:g.133584678G>A (hg19) ; chr8:g.132572430G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572430G>A , CM000670.2:g.132572430G>A	GRCh38
NC_000008.10:g.133584678G>A , CM000670.1:g.133584678G>A	GRCh37
NC_000008.9:g.133653860G>A	NCBI36
NG_033068.1:g.108186C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1277C>T MANE Select	ENSP00000484634.1:p.Pro426Leu
ENST00000250173.5:c.*141C>T	ENSP00000250173.2:n.*141C>T
ENST00000518642.5:c.*141C>T	ENSP00000428610.1:n.*141C>T
ENST00000519595.5:c.1277C>T	ENSP00000429791.1:p.Pro426Leu
ENST00000522597.1:n.546C>T
ENST00000522789.5:c.497C>T	ENSP00000428015.1:p.Pro166Leu
ENST00000618342.1:c.1277C>T	ENSP00000484802.1:p.Pro426Leu
ENST00000620350.4:c.1277C>T	ENSP00000484634.1:p.Pro426Leu
NM_012472.4:c.1277C>T	NP_036604.2:p.Pro426Leu
NR_073525.1:n.1501C>T
XM_006716538.2:c.1295C>T	XP_006716601.2:p.Pro432Leu
XM_011516950.1:c.1235C>T	XP_011515252.1:p.Pro412Leu
XM_011516952.1:c.1031C>T	XP_011515254.1:p.Pro344Leu
XM_011516953.1:c.917C>T	XP_011515255.1:p.Pro306Leu
XM_011516954.1:c.917C>T	XP_011515256.1:p.Pro306Leu
XR_428377.2:n.1529C>T
NM_001321961.1:c.1217C>T	NP_001308890.1:p.Pro406Leu
NM_001321962.1:c.1031C>T	NP_001308891.1:p.Pro344Leu
NM_001321963.1:c.917C>T	NP_001308892.1:p.Pro306Leu
NM_001321964.1:c.917C>T	NP_001308893.1:p.Pro306Leu
NM_001321965.1:c.917C>T	NP_001308894.1:p.Pro306Leu
NM_001321966.1:c.857C>T	NP_001308895.1:p.Pro286Leu
NM_012472.5:c.1277C>T	NP_036604.2:p.Pro426Leu
NR_073525.2:n.1501C>T
NR_135905.1:n.1490C>T
NR_135906.1:n.931C>T
NR_135907.1:n.1177C>T
NR_135908.1:n.871C>T
NR_135909.1:n.1295C>T
NR_135910.1:n.1602C>T
NR_135911.1:n.1681C>T
NR_135912.1:n.2240C>T
NR_135913.1:n.1927C>T
XM_006716538.3:c.1295C>T	XP_006716601.2:p.Pro432Leu
XM_011516950.2:c.1235C>T	XP_011515252.1:p.Pro412Leu
XM_017013296.1:c.1175C>T	XP_016868785.1:p.Pro392Leu
XM_017013297.1:c.917C>T	XP_016868786.1:p.Pro306Leu
XM_017013298.1:c.917C>T	XP_016868787.1:p.Pro306Leu
NM_012472.6:c.1277C>T MANE Select	NP_036604.2:p.Pro426Leu
NM_001321961.2:c.1217C>T	NP_001308890.1:p.Pro406Leu
NM_001321962.2:c.1031C>T	NP_001308891.1:p.Pro344Leu
NM_001321963.2:c.917C>T	NP_001308892.1:p.Pro306Leu
NM_001321964.2:c.917C>T	NP_001308893.1:p.Pro306Leu
NM_001321965.2:c.917C>T	NP_001308894.1:p.Pro306Leu
NM_001321966.2:c.857C>T	NP_001308895.1:p.Pro286Leu
NR_073525.3:n.1429C>T
NR_135905.2:n.1418C>T
NR_135906.2:n.859C>T
NR_135907.2:n.1105C>T
NR_135908.2:n.799C>T
NR_135909.2:n.1315C>T
NR_135910.2:n.1665C>T
NR_135911.2:n.1785C>T
NR_135912.2:n.2344C>T
NR_135913.2:n.2031C>T