Canonical Allele Identifier: CA347263966

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73716825A>T (hg19) ; chr2:g.73489698A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489698A>T , CM000664.2:g.73489698A>T	GRCh38
NC_000002.11:g.73716825A>T , CM000664.1:g.73716825A>T	GRCh37
NC_000002.10:g.73570333A>T	NCBI36
NG_011690.1:g.108946A>T , LRG_741:g.108946A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7358A>T	ENSP00000507671.1:p.Glu2453Val
ENST00000682801.1:c.7358A>T	ENSP00000507862.1:p.Glu2453Val
ENST00000682859.1:c.7358A>T	ENSP00000508222.1:p.Glu2453Val
ENST00000683791.1:c.750A>T
ENST00000684460.1:c.4810A>T
ENST00000684548.1:c.7358A>T	ENSP00000507421.1:p.Glu2453Val
ENST00000684590.1:c.1805A>T	ENSP00000507376.1:p.Glu602Val
ENST00000684656.1:c.4810A>T
ENST00000613296.6:c.7739A>T MANE Select	ENSP00000482968.1:p.Glu2580Val
ENST00000651434.1:c.896-30077A>T
ENST00000423048.5:c.2570A>T	ENSP00000399833.1:p.Glu857Val
ENST00000484298.5:c.7613A>T	ENSP00000478155.1:p.Glu2538Val
ENST00000613296.4:c.7739A>T	ENSP00000482968.1:p.Glu2580Val
ENST00000614410.4:c.7739A>T	ENSP00000479094.1:p.Glu2580Val
ENST00000620466.4:n.1542A>T
NM_015120.4:c.7742A>T , LRG_741t1:c.7742A>T	NP_055935.4:p.Glu2581Val
NM_001378454.1:c.7739A>T MANE Select	NP_001365383.1:p.Glu2580Val