Canonical Allele Identifier: CA1260981250

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489997C= , CM000664.2:g.73489997C=	GRCh38
NC_000002.11:g.73717124C= , CM000664.1:g.73717124C=	GRCh37
NC_000002.10:g.73570632C=	NCBI36
NG_011690.1:g.109245C= , LRG_741:g.109245C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7657C=	ENSP00000507671.1:p.Leu2553=
ENST00000682801.1:c.7657C=	ENSP00000507862.1:p.Leu2553=
ENST00000682859.1:c.7657C=	ENSP00000508222.1:p.Leu2553=
ENST00000683791.1:c.1049C=
ENST00000684460.1:c.5109C=
ENST00000684548.1:c.7657C=	ENSP00000507421.1:p.Leu2553=
ENST00000684590.1:c.2104C=	ENSP00000507376.1:p.Leu702=
ENST00000684656.1:c.5109C=
ENST00000613296.6:c.8038C= MANE Select	ENSP00000482968.1:p.Leu2680=
ENST00000651434.1:c.896-29778C=
ENST00000423048.5:c.2869C=	ENSP00000399833.1:p.Leu957=
ENST00000484298.5:c.7912C=	ENSP00000478155.1:p.Leu2638=
ENST00000613296.4:c.8038C=	ENSP00000482968.1:p.Leu2680=
ENST00000614410.4:c.8038C=	ENSP00000479094.1:p.Leu2680=
ENST00000620466.4:n.1841C=
NM_015120.4:c.8041C= , LRG_741t1:c.8041C=	NP_055935.4:p.Leu2681=
NM_001378454.1:c.8038C= MANE Select	NP_001365383.1:p.Leu2680=