Canonical Allele Identifier: CA427000762

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 3007660
• ClinVar RCV Id: RCV003864259
• MyVariant Identifiers: chr2:g.73717147T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490020T>A , CM000664.2:g.73490020T>A	GRCh38
NC_000002.11:g.73717147T>A , CM000664.1:g.73717147T>A	GRCh37
NC_000002.10:g.73570655T>A	NCBI36
NG_011690.1:g.109268T>A , LRG_741:g.109268T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.7680T>A	ENSP00000507671.1:p.Ala2560=
ENST00000682801.1:c.7680T>A	ENSP00000507862.1:p.Ala2560=
ENST00000682859.1:c.7680T>A	ENSP00000508222.1:p.Ala2560=
ENST00000683791.1:c.1072T>A
ENST00000684460.1:c.5132T>A
ENST00000684548.1:c.7680T>A	ENSP00000507421.1:p.Ala2560=
ENST00000684590.1:c.2127T>A	ENSP00000507376.1:p.Ala709=
ENST00000684656.1:c.5132T>A
ENST00000613296.6:c.8061T>A MANE Select	ENSP00000482968.1:p.Ala2687=
ENST00000651434.1:c.896-29755T>A
ENST00000423048.5:c.2892T>A	ENSP00000399833.1:p.Ala964=
ENST00000484298.5:c.7935T>A	ENSP00000478155.1:p.Ala2645=
ENST00000613296.4:c.8061T>A	ENSP00000482968.1:p.Ala2687=
ENST00000614410.4:c.8061T>A	ENSP00000479094.1:p.Ala2687=
ENST00000620466.4:n.1864T>A
NM_015120.4:c.8064T>A , LRG_741t1:c.8064T>A	NP_055935.4:p.Ala2688=
NM_001378454.1:c.8061T>A MANE Select	NP_001365383.1:p.Ala2687=