Canonical Allele Identifier: CA347286760

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 3012254
• ClinVar RCV Id: RCV003875381
• dbSNP Id: rs2104106148
• MyVariant Identifiers: chr2:g.73800003C>T (hg19) ; chr2:g.73572876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572876C>T , CM000664.2:g.73572876C>T	GRCh38
NC_000002.11:g.73800003C>T , CM000664.1:g.73800003C>T	GRCh37
NC_000002.10:g.73653511C>T	NCBI36
NG_011690.1:g.192124C>T , LRG_741:g.192124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10618C>T	ENSP00000507671.1:p.Gln3540Ter
ENST00000682801.1:c.10618C>T	ENSP00000507862.1:p.Gln3540Ter
ENST00000682859.1:c.10618C>T	ENSP00000508222.1:p.Gln3540Ter
ENST00000683791.1:c.3704C>T
ENST00000684460.1:c.7899C>T
ENST00000684548.1:c.10618C>T	ENSP00000507421.1:p.Gln3540Ter
ENST00000684590.1:c.5065C>T	ENSP00000507376.1:p.Gln1689Ter
ENST00000684656.1:c.7944C>T
ENST00000613296.6:c.10999C>T MANE Select	ENSP00000482968.1:p.Gln3667Ter
ENST00000651057.1:c.1153C>T	ENSP00000498504.1:p.Gln385Ter
ENST00000651434.1:c.2355C>T
ENST00000651750.1:c.387C>T
ENST00000652487.1:c.2096C>T
ENST00000423048.5:c.4490C>T	ENSP00000399833.1:n.4490C>T
ENST00000484298.5:c.10873C>T	ENSP00000478155.1:p.Gln3625Ter
ENST00000613296.4:c.10999C>T	ENSP00000482968.1:p.Gln3667Ter
ENST00000614410.4:c.10999C>T	ENSP00000479094.1:p.Gln3667Ter
ENST00000620466.4:n.4802C>T
NM_015120.4:c.11002C>T , LRG_741t1:c.11002C>T	NP_055935.4:p.Gln3668Ter
NM_001378454.1:c.10999C>T MANE Select	NP_001365383.1:p.Gln3667Ter