Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74891382T= , CM000677.2:g.74891382T=	GRCh38
NC_000015.9:g.75183723T= , CM000677.1:g.75183723T=	GRCh37
NC_000015.8:g.72970776T=	NCBI36
NG_008921.1:g.6314T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.148T= MANE Select	ENSP00000318318.6:p.Trp50=
ENST00000323744.10:c.148T=	ENSP00000318192.6:p.Trp50=
ENST00000352410.8:c.148T=	ENSP00000318318.6:p.Trp50=
ENST00000535694.5:c.-3T=	ENSP00000440447.1:n.-3T=
ENST00000561470.5:c.*44T=	ENSP00000454267.1:n.*44T=
ENST00000562606.5:c.88T=	ENSP00000457020.1:p.Trp30=
ENST00000562800.5:c.148T=	ENSP00000457619.1:p.Trp50=
ENST00000563422.5:c.148T=	ENSP00000457885.1:p.Trp50=
ENST00000563786.5:c.88T=	ENSP00000455241.1:p.Trp30=
ENST00000564003.5:c.-3T=	ENSP00000454312.1:n.-3T=
ENST00000564633.5:c.88T=	ENSP00000455383.1:p.Trp30=
ENST00000565576.5:c.148T=	ENSP00000454619.1:p.Trp50=
ENST00000566377.5:c.148T=	ENSP00000455405.1:p.Trp50=
ENST00000567116.5:n.179T=
ENST00000567132.5:c.148T=	ENSP00000455972.1:p.Trp50=
ENST00000567177.1:c.109T=	ENSP00000457013.1:p.Trp37=
ENST00000567570.5:c.88T=	ENSP00000455477.1:p.Trp30=
ENST00000568828.5:c.145-33T=	ENSP00000455065.1:n.145-33T=
ENST00000568840.1:n.257T=
ENST00000568907.5:c.148T=	ENSP00000457494.1:p.Trp50=
ENST00000569233.5:c.205T=	ENSP00000454622.1:p.Trp69=
ENST00000569931.5:c.88T=	ENSP00000455161.1:p.Trp30=
NM_001289155.1:c.148T=	NP_001276084.1:p.Trp50=
NM_001289156.1:c.-3T=	NP_001276085.1:n.-3T=
NM_001289157.1:c.148T=	NP_001276086.1:p.Trp50=
NM_002435.2:c.148T=	NP_002426.1:p.Trp50=
XM_011521592.1:c.136T=	XP_011519894.1:p.Trp46=
XM_011521593.1:c.88T=	XP_011519895.1:p.Trp30=
NM_001330372.1:c.88T=	NP_001317301.1:p.Trp30=
XM_017022208.1:c.88T=	XP_016877697.1:p.Trp30=
XM_017022209.2:c.-3T=	XP_016877698.1:n.-3T=
NM_002435.3:c.148T= MANE Select	NP_002426.1:p.Trp50=
NM_001289155.2:c.148T=	NP_001276084.1:p.Trp50=
NM_001289156.2:c.-3T=	NP_001276085.1:n.-3T=
NM_001289157.2:c.148T=	NP_001276086.1:p.Trp50=
NM_001330372.2:c.88T=	NP_001317301.1:p.Trp30=