Canonical Allele Identifier: CA426783623

Gene: ALMS1

Linked Data

• dbSNP Id: rs1173645798
• gnomAD v2: 2-73828530-C-T
• gnomAD v4: 2-73601403-C-T
• MyVariant Identifiers: chr2:g.73828530C>T (hg19) ; chr2:g.73601403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601403C>T , CM000664.2:g.73601403C>T	GRCh38
NC_000002.11:g.73828530C>T , CM000664.1:g.73828530C>T	GRCh37
NC_000002.10:g.73682038C>T	NCBI36
NG_011690.1:g.220651C>T , LRG_741:g.220651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11700C>T	ENSP00000507671.1:p.Asp3900=
ENST00000682801.1:c.11167-782C>T	ENSP00000507862.1:n.11167-782C>T
ENST00000682859.1:c.11700C>T	ENSP00000508222.1:p.Asp3900=
ENST00000683791.1:c.4786C>T
ENST00000684460.1:c.8981C>T
ENST00000684548.1:c.11700C>T	ENSP00000507421.1:p.Asp3900=
ENST00000684590.1:c.6147C>T	ENSP00000507376.1:p.Asp2049=
ENST00000684656.1:c.9165C>T
ENST00000613296.6:c.12081C>T MANE Select	ENSP00000482968.1:p.Asp4027=
ENST00000651057.1:c.2235C>T	ENSP00000498504.1:p.Asp745=
ENST00000651434.1:c.3437C>T
ENST00000651750.1:c.1260+522C>T
ENST00000652487.1:c.3252C>T
ENST00000464408.3:n.256C>T
ENST00000484298.5:c.11955C>T	ENSP00000478155.1:p.Asp3985=
ENST00000613296.4:c.12081C>T	ENSP00000482968.1:p.Asp4027=
ENST00000620466.4:n.5884C>T
NM_015120.4:c.12084C>T , LRG_741t1:c.12084C>T	NP_055935.4:p.Asp4028=
NM_001378454.1:c.12081C>T MANE Select	NP_001365383.1:p.Asp4027=