Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794402A>G , CM000663.2:g.11794402A>G	GRCh38
NC_000001.10:g.11854459A>G , CM000663.1:g.11854459A>G	GRCh37
NC_000001.9:g.11777046A>G	NCBI36
NG_013351.1:g.16702T>C , LRG_726:g.16702T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1426T>C	ENSP00000365770.1:p.Phe476Leu
ENST00000376590.9:c.1303T>C MANE Select	ENSP00000365775.3:p.Phe435Leu
ENST00000376592.6:c.1303T>C	ENSP00000365777.1:p.Phe435Leu
ENST00000423400.7:c.1423T>C	ENSP00000398908.3:p.Phe475Leu
ENST00000641407.1:c.1303T>C	ENSP00000493098.1:p.Phe435Leu
ENST00000641446.1:c.1303T>C	ENSP00000493262.1:p.Phe435Leu
ENST00000641747.1:c.*815T>C	ENSP00000493116.1:n.*815T>C
ENST00000641759.1:n.1672T>C
ENST00000641805.1:n.1820T>C
ENST00000641820.1:c.568T>C	ENSP00000492937.1:p.Phe190Leu
ENST00000376583.7:c.1426T>C	ENSP00000365767.3:p.Phe476Leu
ENST00000376585.5:c.1426T>C	ENSP00000365770.1:p.Phe476Leu
ENST00000376590.7:c.1303T>C	ENSP00000365775.3:p.Phe435Leu
ENST00000376592.5:c.1303T>C	ENSP00000365777.1:p.Phe435Leu
NM_005957.4:c.1303T>C , LRG_726t1:c.1303T>C	NP_005948.3:p.Phe435Leu
XM_005263458.2:c.1426T>C	XP_005263515.1:p.Phe476Leu
XM_005263460.3:c.1303T>C	XP_005263517.1:p.Phe435Leu
XM_005263461.3:c.1303T>C	XP_005263518.1:p.Phe435Leu
XM_005263462.3:c.1303T>C	XP_005263519.1:p.Phe435Leu
XM_005263463.2:c.1057T>C	XP_005263520.1:p.Phe353Leu
XM_011541495.1:c.1423T>C	XP_011539797.1:p.Phe475Leu
XM_011541496.1:c.1426T>C	XP_011539798.1:p.Phe476Leu
NM_001330358.1:c.1426T>C	NP_001317287.1:p.Phe476Leu
XM_005263460.5:c.1303T>C	XP_005263517.1:p.Phe435Leu
XM_005263462.4:c.1303T>C	XP_005263519.1:p.Phe435Leu
XM_005263463.4:c.1057T>C	XP_005263520.1:p.Phe353Leu
XM_011541495.3:c.1423T>C	XP_011539797.1:p.Phe475Leu
XM_011541496.3:c.1426T>C	XP_011539798.1:p.Phe476Leu
XM_017001328.2:c.1426T>C	XP_016856817.1:p.Phe476Leu
XM_024447198.1:c.1057T>C	XP_024302966.1:p.Phe353Leu
XR_002956640.1:n.2404T>C
NM_005957.5:c.1303T>C MANE Select	NP_005948.3:p.Phe435Leu
NM_001330358.2:c.1426T>C	NP_001317287.1:p.Phe476Leu