Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7586745T= , CM000679.2:g.7586745T=	GRCh38
NC_000017.10:g.7490063T= , CM000679.1:g.7490063T=	GRCh37
NC_000017.9:g.7430787T=	NCBI36
NG_009204.1:g.8099T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000250124.11:c.356T= MANE Select	ENSP00000250124.6:p.Leu119=
ENST00000250124.10:c.356T=	ENSP00000250124.6:p.Leu119=
ENST00000359822.10:c.*165T=	ENSP00000352876.6:n.*165T=
ENST00000396501.8:c.356T=	ENSP00000379758.4:p.Leu119=
ENST00000423172.6:c.303-154T=	ENSP00000414071.2:n.303-154T=
ENST00000570458.5:c.212T=
ENST00000571822.5:c.*165T=	ENSP00000458741.1:n.*165T=
ENST00000571877.1:n.277T=
ENST00000572719.5:c.*62T=	ENSP00000459498.1:n.*62T=
ENST00000572836.5:n.367T=
ENST00000572936.5:c.*201T=	ENSP00000459306.1:n.*201T=
ENST00000574558.1:c.125T=
ENST00000576066.5:c.*165T=	ENSP00000461183.1:n.*165T=
ENST00000576272.5:c.329T=
ENST00000577088.5:n.367T=
ENST00000578267.5:n.366T=
ENST00000579445.5:c.356T=	ENSP00000464158.1:p.Leu119=
ENST00000580834.5:c.*62T=	ENSP00000463056.1:n.*62T=
ENST00000581380.1:c.326T=	ENSP00000463966.1:p.Leu109=
ENST00000581886.5:n.349T=
ENST00000584378.5:c.303-416T=	ENSP00000462839.1:n.303-416T=
ENST00000584479.5:c.*62T=	ENSP00000462229.1:n.*62T=
ENST00000585188.5:n.407T=
ENST00000585217.5:c.344T=	ENSP00000463037.1:p.Leu115=
ENST00000614740.4:c.356T=	ENSP00000483943.1:p.Leu119=
ENST00000620608.4:c.356T=	ENSP00000483915.1:p.Leu119=
ENST00000621041.4:c.356T=	ENSP00000479257.1:p.Leu119=
NM_004870.3:c.356T=	NP_004861.2:p.Leu119=
NR_024603.1:n.567T=
XM_006721597.1:c.356T=	XP_006721660.1:p.Leu119=
XM_006721598.1:c.356T=	XP_006721661.1:p.Leu119=
XM_006721599.1:c.356T=	XP_006721662.1:p.Leu119=
XM_011524081.1:c.29T=	XP_011522383.1:p.Leu10=
NM_001330073.1:c.356T=	NP_001317002.1:p.Leu119=
XM_006721597.2:c.356T=	XP_006721660.1:p.Leu119=
XM_006721598.3:c.356T=	XP_006721661.1:p.Leu119=
XM_011524081.2:c.29T=	XP_011522383.1:p.Leu10=
XM_024451040.1:c.29T=	XP_024306808.1:p.Leu10=
NM_004870.4:c.356T= MANE Select	NP_004861.2:p.Leu119=