Canonical Allele Identifier: CA347267104

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828540C>T (hg19) ; chr2:g.73601413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601413C>T , CM000664.2:g.73601413C>T	GRCh38
NC_000002.11:g.73828540C>T , CM000664.1:g.73828540C>T	GRCh37
NC_000002.10:g.73682048C>T	NCBI36
NG_011690.1:g.220661C>T , LRG_741:g.220661C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11710C>T	ENSP00000507671.1:p.Pro3904Ser
ENST00000682801.1:c.11167-772C>T	ENSP00000507862.1:n.11167-772C>T
ENST00000682859.1:c.11710C>T	ENSP00000508222.1:p.Pro3904Ser
ENST00000683791.1:c.4796C>T
ENST00000684460.1:c.8991C>T
ENST00000684548.1:c.11710C>T	ENSP00000507421.1:p.Pro3904Ser
ENST00000684590.1:c.6157C>T	ENSP00000507376.1:p.Pro2053Ser
ENST00000684656.1:c.9175C>T
ENST00000613296.6:c.12091C>T MANE Select	ENSP00000482968.1:p.Pro4031Ser
ENST00000651057.1:c.2245C>T	ENSP00000498504.1:p.Pro749Ser
ENST00000651434.1:c.3447C>T
ENST00000651750.1:c.1260+532C>T
ENST00000652487.1:c.3262C>T
ENST00000464408.3:n.266C>T
ENST00000484298.5:c.11965C>T	ENSP00000478155.1:p.Pro3989Ser
ENST00000613296.4:c.12091C>T	ENSP00000482968.1:p.Pro4031Ser
ENST00000620466.4:n.5894C>T
NM_015120.4:c.12094C>T , LRG_741t1:c.12094C>T	NP_055935.4:p.Pro4032Ser
NM_001378454.1:c.12091C>T MANE Select	NP_001365383.1:p.Pro4031Ser