Canonical Allele Identifier: CA10576796

Gene: MYPN

Linked Data

• ClinVar Variation Id: 229028
• ClinVar RCV Id: RCV000213132 ; RCV001234753 ; RCV002503859
• dbSNP Id: rs876657919
• gnomAD v4: 10-68121492-G-C
• MyVariant Identifiers: chr10:g.69881249G>C (hg19) ; chr10:g.68121492G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68121492G>C , CM000672.2:g.68121492G>C	GRCh38
NC_000010.10:g.69881249G>C , CM000672.1:g.69881249G>C	GRCh37
NC_000010.9:g.69551255G>C	NCBI36
NG_032118.1:g.20376G>C , LRG_410:g.20376G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.77+14691G>C	ENSP00000346369.2:n.77+14691G>C
ENST00000373675.4:c.54G>C	ENSP00000362779.4:p.Glu18Asp
ENST00000540630.6:c.54G>C	ENSP00000441668.3:p.Glu18Asp
ENST00000613327.5:c.54G>C	ENSP00000480757.2:p.Glu18Asp
ENST00000685006.1:c.126G>C	ENSP00000510318.1:p.Glu42Asp
ENST00000685060.1:n.291G>C
ENST00000685154.1:c.54G>C	ENSP00000509251.1:p.Glu18Asp
ENST00000685627.1:c.*65G>C	ENSP00000508637.1:n.*65G>C
ENST00000686289.1:n.113+15309G>C
ENST00000687572.1:c.-221+15309G>C	ENSP00000510427.1:n.-221+15309G>C
ENST00000687705.1:c.*303G>C	ENSP00000509639.1:n.*303G>C
ENST00000688812.1:c.54G>C	ENSP00000510658.1:p.Glu18Asp
ENST00000689218.1:n.283G>C
ENST00000689484.1:c.-220-21448G>C	ENSP00000509884.1:n.-220-21448G>C
ENST00000689797.1:c.-220-21448G>C	ENSP00000510689.1:n.-220-21448G>C
ENST00000690544.1:c.54G>C	ENSP00000508989.1:p.Glu18Asp
ENST00000692038.1:c.*303G>C	ENSP00000509220.1:n.*303G>C
ENST00000692953.1:n.62+15309G>C
ENST00000692979.1:c.54G>C	ENSP00000509849.1:p.Glu18Asp
ENST00000358913.10:c.54G>C MANE Select	ENSP00000351790.5:p.Glu18Asp
ENST00000354393.6:c.77+14691G>C	ENSP00000346369.2:n.77+14691G>C
ENST00000358913.9:c.54G>C	ENSP00000351790.5:p.Glu18Asp
ENST00000373675.3:c.54G>C	ENSP00000362779.3:p.Glu18Asp
ENST00000540630.5:c.54G>C	ENSP00000441668.2:p.Glu18Asp
ENST00000613327.4:c.-1069G>C	ENSP00000480757.1:n.-1069G>C
NM_001256267.1:c.54G>C	NP_001243196.1:p.Glu18Asp
NM_001256268.1:c.-1069G>C	NP_001243197.1:n.-1069G>C
NM_032578.3:c.54G>C , LRG_410t1:c.54G>C	NP_115967.2:p.Glu18Asp
NR_045662.3:n.329+14691G>C
NR_045663.3:n.346G>C
XM_006718043.2:c.54G>C	XP_006718106.1:p.Glu18Asp
XM_011540292.1:c.54G>C	XP_011538594.1:p.Glu18Asp
XM_017016833.1:c.132G>C	XP_016872322.1:p.Glu44Asp
XM_017016834.2:c.54G>C	XP_016872323.1:p.Glu18Asp
XM_024448236.1:c.-221+15309G>C	XP_024304004.1:n.-221+15309G>C
NR_045662.4:n.439+14691G>C
NR_045663.4:n.291G>C
NM_001256267.2:c.54G>C	NP_001243196.1:p.Glu18Asp
NM_001256268.2:c.-1069G>C	NP_001243197.1:n.-1069G>C
NM_032578.4:c.54G>C MANE Select	NP_115967.2:p.Glu18Asp