Canonical Allele Identifier: CA347286781

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73800005A>C (hg19) ; chr2:g.73572878A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572878A>C , CM000664.2:g.73572878A>C	GRCh38
NC_000002.11:g.73800005A>C , CM000664.1:g.73800005A>C	GRCh37
NC_000002.10:g.73653513A>C	NCBI36
NG_011690.1:g.192126A>C , LRG_741:g.192126A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10620A>C	ENSP00000507671.1:p.Gln3540His
ENST00000682801.1:c.10620A>C	ENSP00000507862.1:p.Gln3540His
ENST00000682859.1:c.10620A>C	ENSP00000508222.1:p.Gln3540His
ENST00000683791.1:c.3706A>C
ENST00000684460.1:c.7901A>C
ENST00000684548.1:c.10620A>C	ENSP00000507421.1:p.Gln3540His
ENST00000684590.1:c.5067A>C	ENSP00000507376.1:p.Gln1689His
ENST00000684656.1:c.7946A>C
ENST00000613296.6:c.11001A>C MANE Select	ENSP00000482968.1:p.Gln3667His
ENST00000651057.1:c.1155A>C	ENSP00000498504.1:p.Gln385His
ENST00000651434.1:c.2357A>C
ENST00000651750.1:c.389A>C
ENST00000652487.1:c.2098A>C
ENST00000423048.5:c.4492A>C	ENSP00000399833.1:n.4492A>C
ENST00000484298.5:c.10875A>C	ENSP00000478155.1:p.Gln3625His
ENST00000613296.4:c.11001A>C	ENSP00000482968.1:p.Gln3667His
ENST00000614410.4:c.11001A>C	ENSP00000479094.1:p.Gln3667His
ENST00000620466.4:n.4804A>C
NM_015120.4:c.11004A>C , LRG_741t1:c.11004A>C	NP_055935.4:p.Gln3668His
NM_001378454.1:c.11001A>C MANE Select	NP_001365383.1:p.Gln3667His