Canonical Allele Identifier: CA347286807

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73800008G>C (hg19) ; chr2:g.73572881G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572881G>C , CM000664.2:g.73572881G>C	GRCh38
NC_000002.11:g.73800008G>C , CM000664.1:g.73800008G>C	GRCh37
NC_000002.10:g.73653516G>C	NCBI36
NG_011690.1:g.192129G>C , LRG_741:g.192129G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10623G>C	ENSP00000507671.1:p.Gln3541His
ENST00000682801.1:c.10623G>C	ENSP00000507862.1:p.Gln3541His
ENST00000682859.1:c.10623G>C	ENSP00000508222.1:p.Gln3541His
ENST00000683791.1:c.3709G>C
ENST00000684460.1:c.7904G>C
ENST00000684548.1:c.10623G>C	ENSP00000507421.1:p.Gln3541His
ENST00000684590.1:c.5070G>C	ENSP00000507376.1:p.Gln1690His
ENST00000684656.1:c.7949G>C
ENST00000613296.6:c.11004G>C MANE Select	ENSP00000482968.1:p.Gln3668His
ENST00000651057.1:c.1158G>C	ENSP00000498504.1:p.Gln386His
ENST00000651434.1:c.2360G>C
ENST00000651750.1:c.392G>C
ENST00000652487.1:c.2101G>C
ENST00000423048.5:c.4495G>C	ENSP00000399833.1:n.4495G>C
ENST00000484298.5:c.10878G>C	ENSP00000478155.1:p.Gln3626His
ENST00000613296.4:c.11004G>C	ENSP00000482968.1:p.Gln3668His
ENST00000614410.4:c.11004G>C	ENSP00000479094.1:p.Gln3668His
ENST00000620466.4:n.4807G>C
NM_015120.4:c.11007G>C , LRG_741t1:c.11007G>C	NP_055935.4:p.Gln3669His
NM_001378454.1:c.11004G>C MANE Select	NP_001365383.1:p.Gln3668His