Canonical Allele Identifier: CA5522948

Gene: MYPN

Linked Data

• ClinVar Variation Id: 264524
• ClinVar RCV Id: RCV000253785 ; RCV000440850 ; RCV000809764
• dbSNP Id: rs142320290
• ExAC: 10:69955217 G / T
• gnomAD v3: 10-68195460-G-T
• gnomAD v4: 10-68195460-G-T
• MyVariant Identifiers: chr10:g.69955217G>T (hg19) ; chr10:g.68195460G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68195460G>T , CM000672.2:g.68195460G>T	GRCh38
NC_000010.10:g.69955217G>T , CM000672.1:g.69955217G>T	GRCh37
NC_000010.9:g.69625223G>T	NCBI36
NG_032118.1:g.94344G>T , LRG_410:g.94344G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354393.7:c.2261G>T	ENSP00000346369.2:p.Ser754Ile
ENST00000540630.6:c.3140G>T	ENSP00000441668.3:p.Ser1047Ile
ENST00000613327.5:c.3086G>T	ENSP00000480757.2:p.Ser1029Ile
ENST00000688812.1:c.*349G>T	ENSP00000510658.1:n.*349G>T
ENST00000690544.1:c.*2357G>T	ENSP00000508989.1:n.*2357G>T
ENST00000358913.10:c.3086G>T MANE Select	ENSP00000351790.5:p.Ser1029Ile
ENST00000354393.6:c.2261G>T	ENSP00000346369.2:p.Ser754Ile
ENST00000358913.9:c.3086G>T	ENSP00000351790.5:p.Ser1029Ile
ENST00000540630.5:c.3086G>T	ENSP00000441668.2:p.Ser1029Ile
ENST00000613327.4:c.2204G>T	ENSP00000480757.1:p.Ser735Ile
NM_001256267.1:c.3086G>T	NP_001243196.1:p.Ser1029Ile
NM_001256268.1:c.2204G>T	NP_001243197.1:p.Ser735Ile
NM_032578.3:c.3086G>T , LRG_410t1:c.3086G>T	NP_115967.2:p.Ser1029Ile
NR_045662.3:n.2513G>T
NR_045663.3:n.3215G>T
XM_006718043.2:c.3140G>T	XP_006718106.1:p.Ser1047Ile
XM_011540292.1:c.3116G>T	XP_011538594.1:p.Ser1039Ile
XM_017016833.1:c.3164G>T	XP_016872322.1:p.Ser1055Ile
XM_017016834.2:c.3086G>T	XP_016872323.1:p.Ser1029Ile
XM_024448236.1:c.1964G>T	XP_024304004.1:p.Ser655Ile
NR_045662.4:n.2623G>T
NR_045663.4:n.3160G>T
NM_001256267.2:c.3086G>T	NP_001243196.1:p.Ser1029Ile
NM_001256268.2:c.2204G>T	NP_001243197.1:p.Ser735Ile
NM_032578.4:c.3086G>T MANE Select	NP_115967.2:p.Ser1029Ile