Canonical Allele Identifier: CA347283248

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799503C>T (hg19) ; chr2:g.73572376C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572376C>T , CM000664.2:g.73572376C>T	GRCh38
NC_000002.11:g.73799503C>T , CM000664.1:g.73799503C>T	GRCh37
NC_000002.10:g.73653011C>T	NCBI36
NG_011690.1:g.191624C>T , LRG_741:g.191624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10118C>T	ENSP00000507671.1:p.Ser3373Phe
ENST00000682801.1:c.10118C>T	ENSP00000507862.1:p.Ser3373Phe
ENST00000682859.1:c.10118C>T	ENSP00000508222.1:p.Ser3373Phe
ENST00000683791.1:c.3204C>T
ENST00000684460.1:c.7399C>T
ENST00000684548.1:c.10118C>T	ENSP00000507421.1:p.Ser3373Phe
ENST00000684590.1:c.4565C>T	ENSP00000507376.1:p.Ser1522Phe
ENST00000684656.1:c.7444C>T
ENST00000613296.6:c.10499C>T MANE Select	ENSP00000482968.1:p.Ser3500Phe
ENST00000651057.1:c.653C>T	ENSP00000498504.1:p.Ser218Phe
ENST00000651434.1:c.1855C>T
ENST00000652487.1:c.1596C>T
ENST00000423048.5:c.3990C>T	ENSP00000399833.1:n.3990C>T
ENST00000484298.5:c.10373C>T	ENSP00000478155.1:p.Ser3458Phe
ENST00000613296.4:c.10499C>T	ENSP00000482968.1:p.Ser3500Phe
ENST00000614410.4:c.10499C>T	ENSP00000479094.1:p.Ser3500Phe
ENST00000620466.4:n.4302C>T
NM_015120.4:c.10502C>T , LRG_741t1:c.10502C>T	NP_055935.4:p.Ser3501Phe
NM_001378454.1:c.10499C>T MANE Select	NP_001365383.1:p.Ser3500Phe