Canonical Allele Identifier: CA5523189

Gene: MYPN

Linked Data

• ClinVar Variation Id: 1047446
• ClinVar RCV Id: RCV001352157 ; RCV002486460
• dbSNP Id: rs781048271
• ExAC: 10:69970172 C / T
• gnomAD v2: 10-69970172-C-T
• gnomAD v3: 10-68210415-C-T
• gnomAD v4: 10-68210415-C-T
• MyVariant Identifiers: chr10:g.69970172C>T (hg19) ; chr10:g.68210415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68210415C>T , CM000672.2:g.68210415C>T	GRCh38
NC_000010.10:g.69970172C>T , CM000672.1:g.69970172C>T	GRCh37
NC_000010.9:g.69640178C>T	NCBI36
NG_032118.1:g.109299C>T , LRG_410:g.109299C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.3098C>T	ENSP00000346369.2:p.Ser1033Leu
ENST00000540630.6:c.3977C>T	ENSP00000441668.3:p.Ser1326Leu
ENST00000613327.5:c.3923C>T	ENSP00000480757.2:p.Ser1308Leu
ENST00000688812.1:c.*1186C>T	ENSP00000510658.1:n.*1186C>T
ENST00000690544.1:c.*3194C>T	ENSP00000508989.1:n.*3194C>T
ENST00000358913.10:c.3923C>T MANE Select	ENSP00000351790.5:p.Ser1308Leu
ENST00000354393.6:c.3098C>T	ENSP00000346369.2:p.Ser1033Leu
ENST00000358913.9:c.3923C>T	ENSP00000351790.5:p.Ser1308Leu
ENST00000540630.5:c.3923C>T	ENSP00000441668.2:p.Ser1308Leu
ENST00000613327.4:c.3041C>T	ENSP00000480757.1:p.Ser1014Leu
NM_001256267.1:c.3923C>T	NP_001243196.1:p.Ser1308Leu
NM_001256268.1:c.3041C>T	NP_001243197.1:p.Ser1014Leu
NM_032578.3:c.3923C>T , LRG_410t1:c.3923C>T	NP_115967.2:p.Ser1308Leu
NR_045662.3:n.3350C>T
NR_045663.3:n.4052C>T
XM_006718043.2:c.3977C>T	XP_006718106.1:p.Ser1326Leu
XM_011540292.1:c.3953C>T	XP_011538594.1:p.Ser1318Leu
XR_946029.1:n.1574+4873G>A
XM_017016833.1:c.4001C>T	XP_016872322.1:p.Ser1334Leu
XM_017016834.2:c.3923C>T	XP_016872323.1:p.Ser1308Leu
XM_024448236.1:c.2801C>T	XP_024304004.1:p.Ser934Leu
NR_045662.4:n.3460C>T
NR_045663.4:n.3997C>T
NM_001256267.2:c.3923C>T	NP_001243196.1:p.Ser1308Leu
NM_001256268.2:c.3041C>T	NP_001243197.1:p.Ser1014Leu
NM_032578.4:c.3923C>T MANE Select	NP_115967.2:p.Ser1308Leu