Canonical Allele Identifier: CA1260981131

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489733T= , CM000664.2:g.73489733T=	GRCh38
NC_000002.11:g.73716860T= , CM000664.1:g.73716860T=	GRCh37
NC_000002.10:g.73570368T=	NCBI36
NG_011690.1:g.108981T= , LRG_741:g.108981T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7393T=	ENSP00000507671.1:p.Ser2465=
ENST00000682801.1:c.7393T=	ENSP00000507862.1:p.Ser2465=
ENST00000682859.1:c.7393T=	ENSP00000508222.1:p.Ser2465=
ENST00000683791.1:c.785T=
ENST00000684460.1:c.4845T=
ENST00000684548.1:c.7393T=	ENSP00000507421.1:p.Ser2465=
ENST00000684590.1:c.1840T=	ENSP00000507376.1:p.Ser614=
ENST00000684656.1:c.4845T=
ENST00000613296.6:c.7774T= MANE Select	ENSP00000482968.1:p.Ser2592=
ENST00000651434.1:c.896-30042T=
ENST00000423048.5:c.2605T=	ENSP00000399833.1:p.Ser869=
ENST00000484298.5:c.7648T=	ENSP00000478155.1:p.Ser2550=
ENST00000613296.4:c.7774T=	ENSP00000482968.1:p.Ser2592=
ENST00000614410.4:c.7774T=	ENSP00000479094.1:p.Ser2592=
ENST00000620466.4:n.1577T=
NM_015120.4:c.7777T= , LRG_741t1:c.7777T=	NP_055935.4:p.Ser2593=
NM_001378454.1:c.7774T= MANE Select	NP_001365383.1:p.Ser2592=