Canonical Allele Identifier: CA427000795

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717180T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490053T>G , CM000664.2:g.73490053T>G	GRCh38
NC_000002.11:g.73717180T>G , CM000664.1:g.73717180T>G	GRCh37
NC_000002.10:g.73570688T>G	NCBI36
NG_011690.1:g.109301T>G , LRG_741:g.109301T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7713T>G	ENSP00000507671.1:p.Ser2571=
ENST00000682801.1:c.7713T>G	ENSP00000507862.1:p.Ser2571=
ENST00000682859.1:c.7713T>G	ENSP00000508222.1:p.Ser2571=
ENST00000683791.1:c.1105T>G
ENST00000684460.1:c.5165T>G
ENST00000684548.1:c.7713T>G	ENSP00000507421.1:p.Ser2571=
ENST00000684590.1:c.2160T>G	ENSP00000507376.1:p.Ser720=
ENST00000684656.1:c.5165T>G
ENST00000613296.6:c.8094T>G MANE Select	ENSP00000482968.1:p.Ser2698=
ENST00000651434.1:c.896-29722T>G
ENST00000423048.5:c.2925T>G	ENSP00000399833.1:p.Ser975=
ENST00000484298.5:c.7968T>G	ENSP00000478155.1:p.Ser2656=
ENST00000613296.4:c.8094T>G	ENSP00000482968.1:p.Ser2698=
ENST00000614410.4:c.8094T>G	ENSP00000479094.1:p.Ser2698=
ENST00000620466.4:n.1897T>G
NM_015120.4:c.8097T>G , LRG_741t1:c.8097T>G	NP_055935.4:p.Ser2699=
NM_001378454.1:c.8094T>G MANE Select	NP_001365383.1:p.Ser2698=