Canonical Allele Identifier: CA347265496

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 459853
• ClinVar RCV Id: RCV000528709
• dbSNP Id: rs1553403321
• MyVariant Identifiers: chr2:g.73675470G>T (hg19) ; chr2:g.73448343G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73448343G>T , CM000664.2:g.73448343G>T	GRCh38
NC_000002.11:g.73675470G>T , CM000664.1:g.73675470G>T	GRCh37
NC_000002.10:g.73528978G>T	NCBI36
NG_011690.1:g.67591G>T , LRG_741:g.67591G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.1435G>T	ENSP00000507671.1:p.Gly479Ter
ENST00000682801.1:c.1435G>T	ENSP00000507862.1:p.Gly479Ter
ENST00000682859.1:c.1435G>T	ENSP00000508222.1:p.Gly479Ter
ENST00000683791.1:c.685+16052G>T
ENST00000684548.1:c.1435G>T	ENSP00000507421.1:p.Gly479Ter
ENST00000613296.6:c.1816G>T MANE Select	ENSP00000482968.1:p.Gly606Ter
ENST00000484298.5:c.1690G>T	ENSP00000478155.1:p.Gly564Ter
ENST00000613296.4:c.1816G>T	ENSP00000482968.1:p.Gly606Ter
ENST00000614410.4:c.1816G>T	ENSP00000479094.1:p.Gly606Ter
NM_015120.4:c.1819G>T , LRG_741t1:c.1819G>T	NP_055935.4:p.Gly607Ter
NM_001378454.1:c.1816G>T MANE Select	NP_001365383.1:p.Gly606Ter