Canonical Allele Identifier: CA1261033718

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601252T= , CM000664.2:g.73601252T=	GRCh38
NC_000002.11:g.73828379T= , CM000664.1:g.73828379T=	GRCh37
NC_000002.10:g.73681887T=	NCBI36
NG_011690.1:g.220500T= , LRG_741:g.220500T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11549T=	ENSP00000507671.1:p.Val3850=
ENST00000682801.1:c.11167-933T=	ENSP00000507862.1:n.11167-933T=
ENST00000682859.1:c.11549T=	ENSP00000508222.1:p.Val3850=
ENST00000683791.1:c.4635T=
ENST00000684460.1:c.8830T=
ENST00000684548.1:c.11549T=	ENSP00000507421.1:p.Val3850=
ENST00000684590.1:c.5996T=	ENSP00000507376.1:p.Val1999=
ENST00000684656.1:c.9014T=
ENST00000613296.6:c.11930T= MANE Select	ENSP00000482968.1:p.Val3977=
ENST00000651057.1:c.2084T=	ENSP00000498504.1:p.Val695=
ENST00000651434.1:c.3286T=
ENST00000651750.1:c.1260+371T=
ENST00000652487.1:c.3101T=
ENST00000464408.3:n.105T=
ENST00000484298.5:c.11804T=	ENSP00000478155.1:p.Val3935=
ENST00000613296.4:c.11930T=	ENSP00000482968.1:p.Val3977=
ENST00000620466.4:n.5733T=
NM_015120.4:c.11933T= , LRG_741t1:c.11933T=	NP_055935.4:p.Val3978=
NM_001378454.1:c.11930T= MANE Select	NP_001365383.1:p.Val3977=