Canonical Allele Identifier: CA4447828

Gene: CAV1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116526623C>T , CM000669.2:g.116526623C>T	GRCh38
NC_000007.13:g.116166677C>T , CM000669.1:g.116166677C>T	GRCh37
NC_000007.12:g.115953913C>T	NCBI36
NG_012051.1:g.6839C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001753.5:c.129C>T MANE Select	NP_001744.2:p.Asp43=
ENST00000341049.7:c.129C>T MANE Select	ENSP00000339191.2:p.Asp43=
NM_001172895.1:c.36C>T	NP_001166366.1:p.Asp12=
NM_001172896.1:c.36C>T	NP_001166367.1:p.Asp12=
NM_001172896.2:c.36C>T	NP_001166367.1:p.Asp12=
NM_001172897.1:c.36C>T	NP_001166368.1:p.Asp12=
NM_001172897.2:c.36C>T	NP_001166368.1:p.Asp12=
NM_001753.4:c.129C>T	NP_001744.2:p.Asp43=
ENST00000341049.6:c.129C>T	ENSP00000339191.2:p.Asp43=
ENST00000393467.1:c.36C>T	ENSP00000377110.1:p.Asp12=
ENST00000393468.1:c.36C>T	ENSP00000377111.1:p.Asp12=
ENST00000393470.1:c.96C>T	ENSP00000377113.1:p.Asp32=
ENST00000405348.5:c.36C>T	ENSP00000384348.1:p.Asp12=
ENST00000405348.6:c.36C>T	ENSP00000384348.1:p.Asp12=
ENST00000451122.5:c.*581C>T	ENSP00000409541.1:n.*581C>T
ENST00000456473.5:c.36C>T	ENSP00000389033.1:p.Asp12=
ENST00000489856.1:n.180C>T
ENST00000614113.4:c.36C>T	ENSP00000479447.1:p.Asp12=
ENST00000614113.5:c.307C>T	ENSP00000479447.2:p.Arg103Cys