Canonical Allele Identifier: CA1260981231

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489953G= , CM000664.2:g.73489953G=	GRCh38
NC_000002.11:g.73717080G= , CM000664.1:g.73717080G=	GRCh37
NC_000002.10:g.73570588G=	NCBI36
NG_011690.1:g.109201G= , LRG_741:g.109201G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7613G=	ENSP00000507671.1:p.Ser2538=
ENST00000682801.1:c.7613G=	ENSP00000507862.1:p.Ser2538=
ENST00000682859.1:c.7613G=	ENSP00000508222.1:p.Ser2538=
ENST00000683791.1:c.1005G=
ENST00000684460.1:c.5065G=
ENST00000684548.1:c.7613G=	ENSP00000507421.1:p.Ser2538=
ENST00000684590.1:c.2060G=	ENSP00000507376.1:p.Ser687=
ENST00000684656.1:c.5065G=
ENST00000613296.6:c.7994G= MANE Select	ENSP00000482968.1:p.Ser2665=
ENST00000651434.1:c.896-29822G=
ENST00000423048.5:c.2825G=	ENSP00000399833.1:p.Ser942=
ENST00000484298.5:c.7868G=	ENSP00000478155.1:p.Ser2623=
ENST00000613296.4:c.7994G=	ENSP00000482968.1:p.Ser2665=
ENST00000614410.4:c.7994G=	ENSP00000479094.1:p.Ser2665=
ENST00000620466.4:n.1797G=
NM_015120.4:c.7997G= , LRG_741t1:c.7997G=	NP_055935.4:p.Ser2666=
NM_001378454.1:c.7994G= MANE Select	NP_001365383.1:p.Ser2665=