Canonical Allele Identifier: CA427000764

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717147T>G (hg19)

Genomic Alleles

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

Transcript Alleles

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