Canonical Allele Identifier: CA426783568

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828452G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601325G>C , CM000664.2:g.73601325G>C	GRCh38
NC_000002.11:g.73828452G>C , CM000664.1:g.73828452G>C	GRCh37
NC_000002.10:g.73681960G>C	NCBI36
NG_011690.1:g.220573G>C , LRG_741:g.220573G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11622G>C	ENSP00000507671.1:p.Leu3874=
ENST00000682801.1:c.11167-860G>C	ENSP00000507862.1:n.11167-860G>C
ENST00000682859.1:c.11622G>C	ENSP00000508222.1:p.Leu3874=
ENST00000683791.1:c.4708G>C
ENST00000684460.1:c.8903G>C
ENST00000684548.1:c.11622G>C	ENSP00000507421.1:p.Leu3874=
ENST00000684590.1:c.6069G>C	ENSP00000507376.1:p.Leu2023=
ENST00000684656.1:c.9087G>C
ENST00000613296.6:c.12003G>C MANE Select	ENSP00000482968.1:p.Leu4001=
ENST00000651057.1:c.2157G>C	ENSP00000498504.1:p.Leu719=
ENST00000651434.1:c.3359G>C
ENST00000651750.1:c.1260+444G>C
ENST00000652487.1:c.3174G>C
ENST00000464408.3:n.178G>C
ENST00000484298.5:c.11877G>C	ENSP00000478155.1:p.Leu3959=
ENST00000613296.4:c.12003G>C	ENSP00000482968.1:p.Leu4001=
ENST00000620466.4:n.5806G>C
NM_015120.4:c.12006G>C , LRG_741t1:c.12006G>C	NP_055935.4:p.Leu4002=
NM_001378454.1:c.12003G>C MANE Select	NP_001365383.1:p.Leu4001=