Canonical Allele Identifier: CA347267190

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828550G>T (hg19) ; chr2:g.73601423G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601423G>T , CM000664.2:g.73601423G>T	GRCh38
NC_000002.11:g.73828550G>T , CM000664.1:g.73828550G>T	GRCh37
NC_000002.10:g.73682058G>T	NCBI36
NG_011690.1:g.220671G>T , LRG_741:g.220671G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11720G>T	ENSP00000507671.1:p.Arg3907Ile
ENST00000682801.1:c.11167-762G>T	ENSP00000507862.1:n.11167-762G>T
ENST00000682859.1:c.11720G>T	ENSP00000508222.1:p.Arg3907Ile
ENST00000683791.1:c.4806G>T
ENST00000684460.1:c.9001G>T
ENST00000684548.1:c.11720G>T	ENSP00000507421.1:p.Arg3907Ile
ENST00000684590.1:c.6167G>T	ENSP00000507376.1:p.Arg2056Ile
ENST00000684656.1:c.9185G>T
ENST00000613296.6:c.12101G>T MANE Select	ENSP00000482968.1:p.Arg4034Ile
ENST00000651057.1:c.2255G>T	ENSP00000498504.1:p.Arg752Ile
ENST00000651434.1:c.3457G>T
ENST00000651750.1:c.1260+542G>T
ENST00000652487.1:c.3272G>T
ENST00000464408.3:n.276G>T
ENST00000484298.5:c.11975G>T	ENSP00000478155.1:p.Arg3992Ile
ENST00000613296.4:c.12101G>T	ENSP00000482968.1:p.Arg4034Ile
ENST00000620466.4:n.5904G>T
NM_015120.4:c.12104G>T , LRG_741t1:c.12104G>T	NP_055935.4:p.Arg4035Ile
NM_001378454.1:c.12101G>T MANE Select	NP_001365383.1:p.Arg4034Ile