Canonical Allele Identifier: CA347266831

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828508C>T (hg19) ; chr2:g.73601381C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601381C>T , CM000664.2:g.73601381C>T	GRCh38
NC_000002.11:g.73828508C>T , CM000664.1:g.73828508C>T	GRCh37
NC_000002.10:g.73682016C>T	NCBI36
NG_011690.1:g.220629C>T , LRG_741:g.220629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11678C>T	ENSP00000507671.1:p.Pro3893Leu
ENST00000682801.1:c.11167-804C>T	ENSP00000507862.1:n.11167-804C>T
ENST00000682859.1:c.11678C>T	ENSP00000508222.1:p.Pro3893Leu
ENST00000683791.1:c.4764C>T
ENST00000684460.1:c.8959C>T
ENST00000684548.1:c.11678C>T	ENSP00000507421.1:p.Pro3893Leu
ENST00000684590.1:c.6125C>T	ENSP00000507376.1:p.Pro2042Leu
ENST00000684656.1:c.9143C>T
ENST00000613296.6:c.12059C>T MANE Select	ENSP00000482968.1:p.Pro4020Leu
ENST00000651057.1:c.2213C>T	ENSP00000498504.1:p.Pro738Leu
ENST00000651434.1:c.3415C>T
ENST00000651750.1:c.1260+500C>T
ENST00000652487.1:c.3230C>T
ENST00000464408.3:n.234C>T
ENST00000484298.5:c.11933C>T	ENSP00000478155.1:p.Pro3978Leu
ENST00000613296.4:c.12059C>T	ENSP00000482968.1:p.Pro4020Leu
ENST00000620466.4:n.5862C>T
NM_015120.4:c.12062C>T , LRG_741t1:c.12062C>T	NP_055935.4:p.Pro4021Leu
NM_001378454.1:c.12059C>T MANE Select	NP_001365383.1:p.Pro4020Leu