Canonical Allele Identifier: CA347283235

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799501A>T (hg19) ; chr2:g.73572374A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572374A>T , CM000664.2:g.73572374A>T	GRCh38
NC_000002.11:g.73799501A>T , CM000664.1:g.73799501A>T	GRCh37
NC_000002.10:g.73653009A>T	NCBI36
NG_011690.1:g.191622A>T , LRG_741:g.191622A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10116A>T	ENSP00000507671.1:p.Glu3372Asp
ENST00000682801.1:c.10116A>T	ENSP00000507862.1:p.Glu3372Asp
ENST00000682859.1:c.10116A>T	ENSP00000508222.1:p.Glu3372Asp
ENST00000683791.1:c.3202A>T
ENST00000684460.1:c.7397A>T
ENST00000684548.1:c.10116A>T	ENSP00000507421.1:p.Glu3372Asp
ENST00000684590.1:c.4563A>T	ENSP00000507376.1:p.Glu1521Asp
ENST00000684656.1:c.7442A>T
ENST00000613296.6:c.10497A>T MANE Select	ENSP00000482968.1:p.Glu3499Asp
ENST00000651057.1:c.651A>T	ENSP00000498504.1:p.Glu217Asp
ENST00000651434.1:c.1853A>T
ENST00000652487.1:c.1594A>T
ENST00000423048.5:c.3988A>T	ENSP00000399833.1:n.3988A>T
ENST00000484298.5:c.10371A>T	ENSP00000478155.1:p.Glu3457Asp
ENST00000613296.4:c.10497A>T	ENSP00000482968.1:p.Glu3499Asp
ENST00000614410.4:c.10497A>T	ENSP00000479094.1:p.Glu3499Asp
ENST00000620466.4:n.4300A>T
NM_015120.4:c.10500A>T , LRG_741t1:c.10500A>T	NP_055935.4:p.Glu3500Asp
NM_001378454.1:c.10497A>T MANE Select	NP_001365383.1:p.Glu3499Asp