Canonical Allele Identifier: CA1260981244

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489987G= , CM000664.2:g.73489987G=	GRCh38
NC_000002.11:g.73717114G= , CM000664.1:g.73717114G=	GRCh37
NC_000002.10:g.73570622G=	NCBI36
NG_011690.1:g.109235G= , LRG_741:g.109235G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7647G=	ENSP00000507671.1:p.Met2549=
ENST00000682801.1:c.7647G=	ENSP00000507862.1:p.Met2549=
ENST00000682859.1:c.7647G=	ENSP00000508222.1:p.Met2549=
ENST00000683791.1:c.1039G=
ENST00000684460.1:c.5099G=
ENST00000684548.1:c.7647G=	ENSP00000507421.1:p.Met2549=
ENST00000684590.1:c.2094G=	ENSP00000507376.1:p.Met698=
ENST00000684656.1:c.5099G=
ENST00000613296.6:c.8028G= MANE Select	ENSP00000482968.1:p.Met2676=
ENST00000651434.1:c.896-29788G=
ENST00000423048.5:c.2859G=	ENSP00000399833.1:p.Met953=
ENST00000484298.5:c.7902G=	ENSP00000478155.1:p.Met2634=
ENST00000613296.4:c.8028G=	ENSP00000482968.1:p.Met2676=
ENST00000614410.4:c.8028G=	ENSP00000479094.1:p.Met2676=
ENST00000620466.4:n.1831G=
NM_015120.4:c.8031G= , LRG_741t1:c.8031G=	NP_055935.4:p.Met2677=
NM_001378454.1:c.8028G= MANE Select	NP_001365383.1:p.Met2676=