Canonical Allele Identifier: CA347276199

Gene: ALMS1

Linked Data

• dbSNP Id: rs1475371841
• gnomAD v2: 2-73677328-C-T
• MyVariant Identifiers: chr2:g.73677328C>T (hg19) ; chr2:g.73450201C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450201C>T , CM000664.2:g.73450201C>T	GRCh38
NC_000002.11:g.73677328C>T , CM000664.1:g.73677328C>T	GRCh37
NC_000002.10:g.73530836C>T	NCBI36
NG_011690.1:g.69449C>T , LRG_741:g.69449C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3293C>T	ENSP00000507671.1:p.Ala1098Val
ENST00000682801.1:c.3293C>T	ENSP00000507862.1:p.Ala1098Val
ENST00000682859.1:c.3293C>T	ENSP00000508222.1:p.Ala1098Val
ENST00000683791.1:c.685+17910C>T
ENST00000684460.1:c.745C>T
ENST00000684548.1:c.3293C>T	ENSP00000507421.1:p.Ala1098Val
ENST00000684656.1:c.745C>T
ENST00000613296.6:c.3674C>T MANE Select	ENSP00000482968.1:p.Ala1225Val
ENST00000484298.5:c.3548C>T	ENSP00000478155.1:p.Ala1183Val
ENST00000613296.4:c.3674C>T	ENSP00000482968.1:p.Ala1225Val
ENST00000614410.4:c.3674C>T	ENSP00000479094.1:p.Ala1225Val
NM_015120.4:c.3677C>T , LRG_741t1:c.3677C>T	NP_055935.4:p.Ala1226Val
NM_001378454.1:c.3674C>T MANE Select	NP_001365383.1:p.Ala1225Val