Canonical Allele Identifier: CA215147

Linked Data

ClinVar Variation Id: 8287
dbSNP Id: rs116840786

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733962C>T , CM000665.2:g.8733962C>T GRCh38
NC_000003.11:g.8775648C>T , CM000665.1:g.8775648C>T GRCh37
NC_000003.10:g.8750648C>T NCBI36
NG_008797.2:g.5153C>T , LRG_329:g.5153C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.86C>T MANE Select ENSP00000341940.2:p.Pro29Leu
ENST00000343849.2:c.86C>T ENSP00000341940.2:p.Pro29Leu
ENST00000397368.2:c.86C>T ENSP00000380525.2:p.Pro29Leu
ENST00000435138.5:c.64+8497G>A ENSP00000412333.1:p.=
ENST00000472766.1:n.127C>T
ENST00000478513.1:n.335+8497G>A
NM_001234.4:c.86C>T (CAV3) NP_001225.1:p.Pro29Leu
NM_033337.2:c.86C>T , LRG_329t1:c.86C>T (CAV3) NP_203123.1:p.Pro29Leu
XR_940435.1:n.330+8497G>A (SSUH2)
XM_017006530.1:c.-283+8497G>A (SSUH2) XP_016862019.1:p.=
NM_001234.5:c.86C>T (CAV3) NP_001225.1:p.Pro29Leu
NM_033337.3:c.86C>T (CAV3) MANE Select NP_203123.1:p.Pro29Leu