Canonical Allele Identifier: CA347267175

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828549A>T (hg19) ; chr2:g.73601422A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601422A>T , CM000664.2:g.73601422A>T	GRCh38
NC_000002.11:g.73828549A>T , CM000664.1:g.73828549A>T	GRCh37
NC_000002.10:g.73682057A>T	NCBI36
NG_011690.1:g.220670A>T , LRG_741:g.220670A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11719A>T	ENSP00000507671.1:p.Arg3907Ter
ENST00000682801.1:c.11167-763A>T	ENSP00000507862.1:n.11167-763A>T
ENST00000682859.1:c.11719A>T	ENSP00000508222.1:p.Arg3907Ter
ENST00000683791.1:c.4805A>T
ENST00000684460.1:c.9000A>T
ENST00000684548.1:c.11719A>T	ENSP00000507421.1:p.Arg3907Ter
ENST00000684590.1:c.6166A>T	ENSP00000507376.1:p.Arg2056Ter
ENST00000684656.1:c.9184A>T
ENST00000613296.6:c.12100A>T MANE Select	ENSP00000482968.1:p.Arg4034Ter
ENST00000651057.1:c.2254A>T	ENSP00000498504.1:p.Arg752Ter
ENST00000651434.1:c.3456A>T
ENST00000651750.1:c.1260+541A>T
ENST00000652487.1:c.3271A>T
ENST00000464408.3:n.275A>T
ENST00000484298.5:c.11974A>T	ENSP00000478155.1:p.Arg3992Ter
ENST00000613296.4:c.12100A>T	ENSP00000482968.1:p.Arg4034Ter
ENST00000620466.4:n.5903A>T
NM_015120.4:c.12103A>T , LRG_741t1:c.12103A>T	NP_055935.4:p.Arg4035Ter
NM_001378454.1:c.12100A>T MANE Select	NP_001365383.1:p.Arg4034Ter