Canonical Allele Identifier: CA347266892

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828516G>T (hg19) ; chr2:g.73601389G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601389G>T , CM000664.2:g.73601389G>T	GRCh38
NC_000002.11:g.73828516G>T , CM000664.1:g.73828516G>T	GRCh37
NC_000002.10:g.73682024G>T	NCBI36
NG_011690.1:g.220637G>T , LRG_741:g.220637G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11686G>T	ENSP00000507671.1:p.Glu3896Ter
ENST00000682801.1:c.11167-796G>T	ENSP00000507862.1:n.11167-796G>T
ENST00000682859.1:c.11686G>T	ENSP00000508222.1:p.Glu3896Ter
ENST00000683791.1:c.4772G>T
ENST00000684460.1:c.8967G>T
ENST00000684548.1:c.11686G>T	ENSP00000507421.1:p.Glu3896Ter
ENST00000684590.1:c.6133G>T	ENSP00000507376.1:p.Glu2045Ter
ENST00000684656.1:c.9151G>T
ENST00000613296.6:c.12067G>T MANE Select	ENSP00000482968.1:p.Glu4023Ter
ENST00000651057.1:c.2221G>T	ENSP00000498504.1:p.Glu741Ter
ENST00000651434.1:c.3423G>T
ENST00000651750.1:c.1260+508G>T
ENST00000652487.1:c.3238G>T
ENST00000464408.3:n.242G>T
ENST00000484298.5:c.11941G>T	ENSP00000478155.1:p.Glu3981Ter
ENST00000613296.4:c.12067G>T	ENSP00000482968.1:p.Glu4023Ter
ENST00000620466.4:n.5870G>T
NM_015120.4:c.12070G>T , LRG_741t1:c.12070G>T	NP_055935.4:p.Glu4024Ter
NM_001378454.1:c.12067G>T MANE Select	NP_001365383.1:p.Glu4023Ter