Canonical Allele Identifier: CA347266835

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717083A>T (hg19) ; chr2:g.73489956A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489956A>T , CM000664.2:g.73489956A>T	GRCh38
NC_000002.11:g.73717083A>T , CM000664.1:g.73717083A>T	GRCh37
NC_000002.10:g.73570591A>T	NCBI36
NG_011690.1:g.109204A>T , LRG_741:g.109204A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7616A>T	ENSP00000507671.1:p.Lys2539Ile
ENST00000682801.1:c.7616A>T	ENSP00000507862.1:p.Lys2539Ile
ENST00000682859.1:c.7616A>T	ENSP00000508222.1:p.Lys2539Ile
ENST00000683791.1:c.1008A>T
ENST00000684460.1:c.5068A>T
ENST00000684548.1:c.7616A>T	ENSP00000507421.1:p.Lys2539Ile
ENST00000684590.1:c.2063A>T	ENSP00000507376.1:p.Lys688Ile
ENST00000684656.1:c.5068A>T
ENST00000613296.6:c.7997A>T MANE Select	ENSP00000482968.1:p.Lys2666Ile
ENST00000651434.1:c.896-29819A>T
ENST00000423048.5:c.2828A>T	ENSP00000399833.1:p.Lys943Ile
ENST00000484298.5:c.7871A>T	ENSP00000478155.1:p.Lys2624Ile
ENST00000613296.4:c.7997A>T	ENSP00000482968.1:p.Lys2666Ile
ENST00000614410.4:c.7997A>T	ENSP00000479094.1:p.Lys2666Ile
ENST00000620466.4:n.1800A>T
NM_015120.4:c.8000A>T , LRG_741t1:c.8000A>T	NP_055935.4:p.Lys2667Ile
NM_001378454.1:c.7997A>T MANE Select	NP_001365383.1:p.Lys2666Ile