Canonical Allele Identifier: CA1260981177

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489820T= , CM000664.2:g.73489820T=	GRCh38
NC_000002.11:g.73716947T= , CM000664.1:g.73716947T=	GRCh37
NC_000002.10:g.73570455T=	NCBI36
NG_011690.1:g.109068T= , LRG_741:g.109068T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7480T=	ENSP00000507671.1:p.Ser2494=
ENST00000682801.1:c.7480T=	ENSP00000507862.1:p.Ser2494=
ENST00000682859.1:c.7480T=	ENSP00000508222.1:p.Ser2494=
ENST00000683791.1:c.872T=
ENST00000684460.1:c.4932T=
ENST00000684548.1:c.7480T=	ENSP00000507421.1:p.Ser2494=
ENST00000684590.1:c.1927T=	ENSP00000507376.1:p.Ser643=
ENST00000684656.1:c.4932T=
ENST00000613296.6:c.7861T= MANE Select	ENSP00000482968.1:p.Ser2621=
ENST00000651434.1:c.896-29955T=
ENST00000423048.5:c.2692T=	ENSP00000399833.1:p.Ser898=
ENST00000484298.5:c.7735T=	ENSP00000478155.1:p.Ser2579=
ENST00000613296.4:c.7861T=	ENSP00000482968.1:p.Ser2621=
ENST00000614410.4:c.7861T=	ENSP00000479094.1:p.Ser2621=
ENST00000620466.4:n.1664T=
NM_015120.4:c.7864T= , LRG_741t1:c.7864T=	NP_055935.4:p.Ser2622=
NM_001378454.1:c.7861T= MANE Select	NP_001365383.1:p.Ser2621=