Canonical Allele Identifier: CA347266058

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73716951G>T (hg19) ; chr2:g.73489824G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489824G>T , CM000664.2:g.73489824G>T	GRCh38
NC_000002.11:g.73716951G>T , CM000664.1:g.73716951G>T	GRCh37
NC_000002.10:g.73570459G>T	NCBI36
NG_011690.1:g.109072G>T , LRG_741:g.109072G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7484G>T	ENSP00000507671.1:p.Cys2495Phe
ENST00000682801.1:c.7484G>T	ENSP00000507862.1:p.Cys2495Phe
ENST00000682859.1:c.7484G>T	ENSP00000508222.1:p.Cys2495Phe
ENST00000683791.1:c.876G>T
ENST00000684460.1:c.4936G>T
ENST00000684548.1:c.7484G>T	ENSP00000507421.1:p.Cys2495Phe
ENST00000684590.1:c.1931G>T	ENSP00000507376.1:p.Cys644Phe
ENST00000684656.1:c.4936G>T
ENST00000613296.6:c.7865G>T MANE Select	ENSP00000482968.1:p.Cys2622Phe
ENST00000651434.1:c.896-29951G>T
ENST00000423048.5:c.2696G>T	ENSP00000399833.1:p.Cys899Phe
ENST00000484298.5:c.7739G>T	ENSP00000478155.1:p.Cys2580Phe
ENST00000613296.4:c.7865G>T	ENSP00000482968.1:p.Cys2622Phe
ENST00000614410.4:c.7865G>T	ENSP00000479094.1:p.Cys2622Phe
ENST00000620466.4:n.1668G>T
NM_015120.4:c.7868G>T , LRG_741t1:c.7868G>T	NP_055935.4:p.Cys2623Phe
NM_001378454.1:c.7865G>T MANE Select	NP_001365383.1:p.Cys2622Phe