Canonical Allele Identifier: CA347285859

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799854T>G (hg19) ; chr2:g.73572727T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572727T>G , CM000664.2:g.73572727T>G	GRCh38
NC_000002.11:g.73799854T>G , CM000664.1:g.73799854T>G	GRCh37
NC_000002.10:g.73653362T>G	NCBI36
NG_011690.1:g.191975T>G , LRG_741:g.191975T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10469T>G	ENSP00000507671.1:p.Leu3490Trp
ENST00000682801.1:c.10469T>G	ENSP00000507862.1:p.Leu3490Trp
ENST00000682859.1:c.10469T>G	ENSP00000508222.1:p.Leu3490Trp
ENST00000683791.1:c.3555T>G
ENST00000684460.1:c.7750T>G
ENST00000684548.1:c.10469T>G	ENSP00000507421.1:p.Leu3490Trp
ENST00000684590.1:c.4916T>G	ENSP00000507376.1:p.Leu1639Trp
ENST00000684656.1:c.7795T>G
ENST00000613296.6:c.10850T>G MANE Select	ENSP00000482968.1:p.Leu3617Trp
ENST00000651057.1:c.1004T>G	ENSP00000498504.1:p.Leu335Trp
ENST00000651434.1:c.2206T>G
ENST00000651750.1:c.238T>G
ENST00000652487.1:c.1947T>G
ENST00000423048.5:c.4341T>G	ENSP00000399833.1:n.4341T>G
ENST00000484298.5:c.10724T>G	ENSP00000478155.1:p.Leu3575Trp
ENST00000613296.4:c.10850T>G	ENSP00000482968.1:p.Leu3617Trp
ENST00000614410.4:c.10850T>G	ENSP00000479094.1:p.Leu3617Trp
ENST00000620466.4:n.4653T>G
NM_015120.4:c.10853T>G , LRG_741t1:c.10853T>G	NP_055935.4:p.Leu3618Trp
NM_001378454.1:c.10850T>G MANE Select	NP_001365383.1:p.Leu3617Trp