Canonical Allele Identifier: CA347264063

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 813154
• ClinVar RCV Id: RCV001199643 ; RCV001543586
• dbSNP Id: rs1672934629
• MyVariant Identifiers: chr2:g.73716872C>T (hg19) ; chr2:g.73489745C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489745C>T , CM000664.2:g.73489745C>T	GRCh38
NC_000002.11:g.73716872C>T , CM000664.1:g.73716872C>T	GRCh37
NC_000002.10:g.73570380C>T	NCBI36
NG_011690.1:g.108993C>T , LRG_741:g.108993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7405C>T	ENSP00000507671.1:p.Gln2469Ter
ENST00000682801.1:c.7405C>T	ENSP00000507862.1:p.Gln2469Ter
ENST00000682859.1:c.7405C>T	ENSP00000508222.1:p.Gln2469Ter
ENST00000683791.1:c.797C>T
ENST00000684460.1:c.4857C>T
ENST00000684548.1:c.7405C>T	ENSP00000507421.1:p.Gln2469Ter
ENST00000684590.1:c.1852C>T	ENSP00000507376.1:p.Gln618Ter
ENST00000684656.1:c.4857C>T
ENST00000613296.6:c.7786C>T MANE Select	ENSP00000482968.1:p.Gln2596Ter
ENST00000651434.1:c.896-30030C>T
ENST00000423048.5:c.2617C>T	ENSP00000399833.1:p.Gln873Ter
ENST00000484298.5:c.7660C>T	ENSP00000478155.1:p.Gln2554Ter
ENST00000613296.4:c.7786C>T	ENSP00000482968.1:p.Gln2596Ter
ENST00000614410.4:c.7786C>T	ENSP00000479094.1:p.Gln2596Ter
ENST00000620466.4:n.1589C>T
NM_015120.4:c.7789C>T , LRG_741t1:c.7789C>T	NP_055935.4:p.Gln2597Ter
NM_001378454.1:c.7786C>T MANE Select	NP_001365383.1:p.Gln2596Ter