Canonical Allele Identifier: CA347268002

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717339T>G (hg19) ; chr2:g.73490212T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490212T>G , CM000664.2:g.73490212T>G	GRCh38
NC_000002.11:g.73717339T>G , CM000664.1:g.73717339T>G	GRCh37
NC_000002.10:g.73570847T>G	NCBI36
NG_011690.1:g.109460T>G , LRG_741:g.109460T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7872T>G	ENSP00000507671.1:p.Asn2624Lys
ENST00000682801.1:c.7872T>G	ENSP00000507862.1:p.Asn2624Lys
ENST00000682859.1:c.7872T>G	ENSP00000508222.1:p.Asn2624Lys
ENST00000683791.1:c.1264T>G
ENST00000684460.1:c.5324T>G
ENST00000684548.1:c.7872T>G	ENSP00000507421.1:p.Asn2624Lys
ENST00000684590.1:c.2319T>G	ENSP00000507376.1:p.Asn773Lys
ENST00000684656.1:c.5324T>G
ENST00000613296.6:c.8253T>G MANE Select	ENSP00000482968.1:p.Asn2751Lys
ENST00000651434.1:c.896-29563T>G
ENST00000423048.5:c.3030+54T>G	ENSP00000399833.1:n.3030+54T>G
ENST00000484298.5:c.8127T>G	ENSP00000478155.1:p.Asn2709Lys
ENST00000613296.4:c.8253T>G	ENSP00000482968.1:p.Asn2751Lys
ENST00000614410.4:c.8253T>G	ENSP00000479094.1:p.Asn2751Lys
ENST00000620466.4:n.2056T>G
NM_015120.4:c.8256T>G , LRG_741t1:c.8256T>G	NP_055935.4:p.Asn2752Lys
NM_001378454.1:c.8253T>G MANE Select	NP_001365383.1:p.Asn2751Lys