Canonical Allele Identifier: CA50377791

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2147961
• ClinVar RCV Id: RCV003068612
• dbSNP Id: rs1019805272
• gnomAD v2: 2-73717061-C-T
• gnomAD v3: 2-73489934-C-T
• gnomAD v4: 2-73489934-C-T
• MyVariant Identifiers: chr2:g.73717061C>T (hg19) ; chr2:g.73489934C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489934C>T , CM000664.2:g.73489934C>T	GRCh38
NC_000002.11:g.73717061C>T , CM000664.1:g.73717061C>T	GRCh37
NC_000002.10:g.73570569C>T	NCBI36
NG_011690.1:g.109182C>T , LRG_741:g.109182C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7594C>T	ENSP00000507671.1:p.Pro2532Ser
ENST00000682801.1:c.7594C>T	ENSP00000507862.1:p.Pro2532Ser
ENST00000682859.1:c.7594C>T	ENSP00000508222.1:p.Pro2532Ser
ENST00000683791.1:c.986C>T
ENST00000684460.1:c.5046C>T
ENST00000684548.1:c.7594C>T	ENSP00000507421.1:p.Pro2532Ser
ENST00000684590.1:c.2041C>T	ENSP00000507376.1:p.Pro681Ser
ENST00000684656.1:c.5046C>T
ENST00000613296.6:c.7975C>T MANE Select	ENSP00000482968.1:p.Pro2659Ser
ENST00000651434.1:c.896-29841C>T
ENST00000423048.5:c.2806C>T	ENSP00000399833.1:p.Pro936Ser
ENST00000484298.5:c.7849C>T	ENSP00000478155.1:p.Pro2617Ser
ENST00000613296.4:c.7975C>T	ENSP00000482968.1:p.Pro2659Ser
ENST00000614410.4:c.7975C>T	ENSP00000479094.1:p.Pro2659Ser
ENST00000620466.4:n.1778C>T
NM_015120.4:c.7978C>T , LRG_741t1:c.7978C>T	NP_055935.4:p.Pro2660Ser
NM_001378454.1:c.7975C>T MANE Select	NP_001365383.1:p.Pro2659Ser