Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.14844518A>C , CM000685.2:g.14844518A>C	GRCh38
NC_000023.10:g.14862640A>C , CM000685.1:g.14862640A>C	GRCh37
NC_000023.9:g.14772561A>C	NCBI36
NG_007310.1:g.33545T>G , LRG_496:g.33545T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001018113.3:c.2150T>G MANE Select	NP_001018123.1:p.Leu717Ter
ENST00000650831.1:c.2150T>G MANE Select	ENSP00000498215.1:p.Leu717Ter
NM_001018113.1:c.2150T>G , LRG_496t1:c.2150T>G	NP_001018123.1:p.Leu717Ter
NM_001018113.2:c.2150T>G	NP_001018123.1:p.Leu717Ter
NM_001324162.1:c.2150T>G	NP_001311091.1:p.Leu717Ter
NM_001324162.2:c.2150T>G	NP_001311091.1:p.Leu717Ter
NM_152633.2:c.2150T>G	NP_689846.1:p.Leu717Ter
NM_152633.3:c.2150T>G	NP_689846.1:p.Leu717Ter
NM_152633.4:c.2150T>G	NP_689846.1:p.Leu717Ter
ENST00000324138.7:c.2150T>G	ENSP00000326819.3:p.Leu717Ter
ENST00000398334.5:c.2150T>G	ENSP00000381378.1:p.Leu717Ter
ENST00000452869.1:c.2150T>G	ENSP00000397849.1:p.Leu717Ter
ENST00000452869.2:c.2150T>G	ENSP00000397849.2:p.Leu717Ter
ENST00000643728.1:c.*1229T>G	ENSP00000495047.1:n.*1229T>G
ENST00000643728.2:c.*1229T>G	ENSP00000495047.1:n.*1229T>G
ENST00000646255.1:c.*1142T>G	ENSP00000494963.1:n.*1142T>G
ENST00000696311.1:c.2150T>G	ENSP00000512549.1:p.Leu717Ter
ENST00000696312.1:c.2150T>G	ENSP00000512550.1:p.Leu717Ter
ENST00000696322.1:c.1523T>G
ENST00000696351.1:c.2150T>G	ENSP00000512572.1:p.Leu717Ter
ENST00000696352.1:c.2150T>G	ENSP00000512573.1:p.Leu717Ter
ENST00000696353.1:c.2150T>G	ENSP00000512574.1:p.Leu717Ter
ENST00000696354.1:c.2150T>G	ENSP00000512575.1:p.Leu717Ter
ENST00000696355.1:c.*180T>G	ENSP00000512576.1:n.*180T>G
ENST00000696356.1:c.2150T>G	ENSP00000512577.1:p.Leu717Ter
ENST00000696357.1:c.2150T>G	ENSP00000512578.1:p.Leu717Ter
XM_011545470.1:c.2150T>G	XP_011543772.1:p.Leu717Ter
XM_011545470.2:c.2150T>G	XP_011543772.1:p.Leu717Ter
XM_017029355.2:c.2150T>G	XP_016884844.1:p.Leu717Ter
XM_017029356.1:c.2150T>G	XP_016884845.1:p.Leu717Ter
XR_001755672.1:n.2611T>G
XR_001755673.1:n.2403T>G
XR_001755674.1:n.2304T>G