Canonical Allele Identifier: CA347266545

Gene: ALMS1

Linked Data

• dbSNP Id: rs2104196152
• MyVariant Identifiers: chr2:g.73828475A>C (hg19) ; chr2:g.73601348A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601348A>C , CM000664.2:g.73601348A>C	GRCh38
NC_000002.11:g.73828475A>C , CM000664.1:g.73828475A>C	GRCh37
NC_000002.10:g.73681983A>C	NCBI36
NG_011690.1:g.220596A>C , LRG_741:g.220596A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11645A>C	ENSP00000507671.1:p.Gln3882Pro
ENST00000682801.1:c.11167-837A>C	ENSP00000507862.1:n.11167-837A>C
ENST00000682859.1:c.11645A>C	ENSP00000508222.1:p.Gln3882Pro
ENST00000683791.1:c.4731A>C
ENST00000684460.1:c.8926A>C
ENST00000684548.1:c.11645A>C	ENSP00000507421.1:p.Gln3882Pro
ENST00000684590.1:c.6092A>C	ENSP00000507376.1:p.Gln2031Pro
ENST00000684656.1:c.9110A>C
ENST00000613296.6:c.12026A>C MANE Select	ENSP00000482968.1:p.Gln4009Pro
ENST00000651057.1:c.2180A>C	ENSP00000498504.1:p.Gln727Pro
ENST00000651434.1:c.3382A>C
ENST00000651750.1:c.1260+467A>C
ENST00000652487.1:c.3197A>C
ENST00000464408.3:n.201A>C
ENST00000484298.5:c.11900A>C	ENSP00000478155.1:p.Gln3967Pro
ENST00000613296.4:c.12026A>C	ENSP00000482968.1:p.Gln4009Pro
ENST00000620466.4:n.5829A>C
NM_015120.4:c.12029A>C , LRG_741t1:c.12029A>C	NP_055935.4:p.Gln4010Pro
NM_001378454.1:c.12026A>C MANE Select	NP_001365383.1:p.Gln4009Pro