Canonical Allele Identifier: CA347283048

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799472C>A (hg19) ; chr2:g.73572345C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572345C>A , CM000664.2:g.73572345C>A	GRCh38
NC_000002.11:g.73799472C>A , CM000664.1:g.73799472C>A	GRCh37
NC_000002.10:g.73652980C>A	NCBI36
NG_011690.1:g.191593C>A , LRG_741:g.191593C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10087C>A	ENSP00000507671.1:p.Leu3363Ile
ENST00000682801.1:c.10087C>A	ENSP00000507862.1:p.Leu3363Ile
ENST00000682859.1:c.10087C>A	ENSP00000508222.1:p.Leu3363Ile
ENST00000683791.1:c.3173C>A
ENST00000684460.1:c.7368C>A
ENST00000684548.1:c.10087C>A	ENSP00000507421.1:p.Leu3363Ile
ENST00000684590.1:c.4534C>A	ENSP00000507376.1:p.Leu1512Ile
ENST00000684656.1:c.7413C>A
ENST00000613296.6:c.10468C>A MANE Select	ENSP00000482968.1:p.Leu3490Ile
ENST00000651057.1:c.622C>A	ENSP00000498504.1:p.Leu208Ile
ENST00000651434.1:c.1824C>A
ENST00000652487.1:c.1565C>A
ENST00000423048.5:c.3959C>A	ENSP00000399833.1:n.3959C>A
ENST00000484298.5:c.10342C>A	ENSP00000478155.1:p.Leu3448Ile
ENST00000613296.4:c.10468C>A	ENSP00000482968.1:p.Leu3490Ile
ENST00000614410.4:c.10468C>A	ENSP00000479094.1:p.Leu3490Ile
ENST00000620466.4:n.4271C>A
NM_015120.4:c.10471C>A , LRG_741t1:c.10471C>A	NP_055935.4:p.Leu3491Ile
NM_001378454.1:c.10468C>A MANE Select	NP_001365383.1:p.Leu3490Ile