Canonical Allele Identifier: CA347276165

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73677315G>T (hg19) ; chr2:g.73450188G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450188G>T , CM000664.2:g.73450188G>T	GRCh38
NC_000002.11:g.73677315G>T , CM000664.1:g.73677315G>T	GRCh37
NC_000002.10:g.73530823G>T	NCBI36
NG_011690.1:g.69436G>T , LRG_741:g.69436G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3280G>T	ENSP00000507671.1:p.Val1094Phe
ENST00000682801.1:c.3280G>T	ENSP00000507862.1:p.Val1094Phe
ENST00000682859.1:c.3280G>T	ENSP00000508222.1:p.Val1094Phe
ENST00000683791.1:c.685+17897G>T
ENST00000684460.1:c.732G>T
ENST00000684548.1:c.3280G>T	ENSP00000507421.1:p.Val1094Phe
ENST00000684656.1:c.732G>T
ENST00000613296.6:c.3661G>T MANE Select	ENSP00000482968.1:p.Val1221Phe
ENST00000484298.5:c.3535G>T	ENSP00000478155.1:p.Val1179Phe
ENST00000613296.4:c.3661G>T	ENSP00000482968.1:p.Val1221Phe
ENST00000614410.4:c.3661G>T	ENSP00000479094.1:p.Val1221Phe
NM_015120.4:c.3664G>T , LRG_741t1:c.3664G>T	NP_055935.4:p.Val1222Phe
NM_001378454.1:c.3661G>T MANE Select	NP_001365383.1:p.Val1221Phe