Canonical Allele Identifier: CA347266861

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 529386
• ClinVar RCV Id: RCV000634797 ; RCV000734688
• dbSNP Id: rs549857076
• gnomAD v4: 2-73489964-C-T
• MyVariant Identifiers: chr2:g.73717091C>T (hg19) ; chr2:g.73489964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489964C>T , CM000664.2:g.73489964C>T	GRCh38
NC_000002.11:g.73717091C>T , CM000664.1:g.73717091C>T	GRCh37
NC_000002.10:g.73570599C>T	NCBI36
NG_011690.1:g.109212C>T , LRG_741:g.109212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7624C>T	ENSP00000507671.1:p.Arg2542Ter
ENST00000682801.1:c.7624C>T	ENSP00000507862.1:p.Arg2542Ter
ENST00000682859.1:c.7624C>T	ENSP00000508222.1:p.Arg2542Ter
ENST00000683791.1:c.1016C>T
ENST00000684460.1:c.5076C>T
ENST00000684548.1:c.7624C>T	ENSP00000507421.1:p.Arg2542Ter
ENST00000684590.1:c.2071C>T	ENSP00000507376.1:p.Arg691Ter
ENST00000684656.1:c.5076C>T
ENST00000613296.6:c.8005C>T MANE Select	ENSP00000482968.1:p.Arg2669Ter
ENST00000651434.1:c.896-29811C>T
ENST00000423048.5:c.2836C>T	ENSP00000399833.1:p.Arg946Ter
ENST00000484298.5:c.7879C>T	ENSP00000478155.1:p.Arg2627Ter
ENST00000613296.4:c.8005C>T	ENSP00000482968.1:p.Arg2669Ter
ENST00000614410.4:c.8005C>T	ENSP00000479094.1:p.Arg2669Ter
ENST00000620466.4:n.1808C>T
NM_015120.4:c.8008C>T , LRG_741t1:c.8008C>T	NP_055935.4:p.Arg2670Ter
NM_001378454.1:c.8005C>T MANE Select	NP_001365383.1:p.Arg2669Ter