Canonical Allele Identifier: CA395199594

Gene: MPV17L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15395953C>A , CM000678.2:g.15395953C>A	GRCh38
NC_000016.9:g.15489810C>A , CM000678.1:g.15489810C>A	GRCh37
NC_000016.8:g.15397311C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001128423.2:c.56C>A MANE Select	NP_001121895.1:p.Thr19Asn
ENST00000396385.4:c.56C>A MANE Select	ENSP00000379669.3:p.Thr19Asn
NM_001128423.1:c.56C>A	NP_001121895.1:p.Thr19Asn
NM_173803.3:c.56C>A	NP_776164.2:p.Thr19Asn
NM_173803.4:c.56C>A	NP_776164.2:p.Thr19Asn
ENST00000287594.7:c.56C>A	ENSP00000287594.6:p.Thr19Asn
ENST00000396385.3:c.56C>A	ENSP00000379669.3:p.Thr19Asn
ENST00000567442.1:c.4C>A
ENST00000568222.5:c.4C>A
ENST00000568766.1:c.56C>A	ENSP00000454340.1:p.Thr19Asn
XM_011522445.1:c.-249C>A	XP_011520747.1:n.-249C>A
XM_017023108.1:c.308C>A	XP_016878597.1:p.Thr103Asn