Canonical Allele Identifier: CA347266829

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1360382
• ClinVar RCV Id: RCV001904864
• dbSNP Id: rs2103890229
• MyVariant Identifiers: chr2:g.73717083A>C (hg19) ; chr2:g.73489956A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489956A>C , CM000664.2:g.73489956A>C	GRCh38
NC_000002.11:g.73717083A>C , CM000664.1:g.73717083A>C	GRCh37
NC_000002.10:g.73570591A>C	NCBI36
NG_011690.1:g.109204A>C , LRG_741:g.109204A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7616A>C	ENSP00000507671.1:p.Lys2539Thr
ENST00000682801.1:c.7616A>C	ENSP00000507862.1:p.Lys2539Thr
ENST00000682859.1:c.7616A>C	ENSP00000508222.1:p.Lys2539Thr
ENST00000683791.1:c.1008A>C
ENST00000684460.1:c.5068A>C
ENST00000684548.1:c.7616A>C	ENSP00000507421.1:p.Lys2539Thr
ENST00000684590.1:c.2063A>C	ENSP00000507376.1:p.Lys688Thr
ENST00000684656.1:c.5068A>C
ENST00000613296.6:c.7997A>C MANE Select	ENSP00000482968.1:p.Lys2666Thr
ENST00000651434.1:c.896-29819A>C
ENST00000423048.5:c.2828A>C	ENSP00000399833.1:p.Lys943Thr
ENST00000484298.5:c.7871A>C	ENSP00000478155.1:p.Lys2624Thr
ENST00000613296.4:c.7997A>C	ENSP00000482968.1:p.Lys2666Thr
ENST00000614410.4:c.7997A>C	ENSP00000479094.1:p.Lys2666Thr
ENST00000620466.4:n.1800A>C
NM_015120.4:c.8000A>C , LRG_741t1:c.8000A>C	NP_055935.4:p.Lys2667Thr
NM_001378454.1:c.7997A>C MANE Select	NP_001365383.1:p.Lys2666Thr