Canonical Allele Identifier: CA376857512

Gene: MYPN

Linked Data

• dbSNP Id: rs1487161453
• gnomAD v2: 10-69955249-C-G
• MyVariant Identifiers: chr10:g.69955249C>G (hg19) ; chr10:g.68195492C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68195492C>G , CM000672.2:g.68195492C>G	GRCh38
NC_000010.10:g.69955249C>G , CM000672.1:g.69955249C>G	GRCh37
NC_000010.9:g.69625255C>G	NCBI36
NG_032118.1:g.94376C>G , LRG_410:g.94376C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.2293C>G	ENSP00000346369.2:p.Pro765Ala
ENST00000540630.6:c.3172C>G	ENSP00000441668.3:p.Pro1058Ala
ENST00000613327.5:c.3118C>G	ENSP00000480757.2:p.Pro1040Ala
ENST00000688812.1:c.*381C>G	ENSP00000510658.1:n.*381C>G
ENST00000690544.1:c.*2389C>G	ENSP00000508989.1:n.*2389C>G
ENST00000358913.10:c.3118C>G MANE Select	ENSP00000351790.5:p.Pro1040Ala
ENST00000354393.6:c.2293C>G	ENSP00000346369.2:p.Pro765Ala
ENST00000358913.9:c.3118C>G	ENSP00000351790.5:p.Pro1040Ala
ENST00000540630.5:c.3118C>G	ENSP00000441668.2:p.Pro1040Ala
ENST00000613327.4:c.2236C>G	ENSP00000480757.1:p.Pro746Ala
NM_001256267.1:c.3118C>G	NP_001243196.1:p.Pro1040Ala
NM_001256268.1:c.2236C>G	NP_001243197.1:p.Pro746Ala
NM_032578.3:c.3118C>G , LRG_410t1:c.3118C>G	NP_115967.2:p.Pro1040Ala
NR_045662.3:n.2545C>G
NR_045663.3:n.3247C>G
XM_006718043.2:c.3172C>G	XP_006718106.1:p.Pro1058Ala
XM_011540292.1:c.3148C>G	XP_011538594.1:p.Pro1050Ala
XM_017016833.1:c.3196C>G	XP_016872322.1:p.Pro1066Ala
XM_017016834.2:c.3118C>G	XP_016872323.1:p.Pro1040Ala
XM_024448236.1:c.1996C>G	XP_024304004.1:p.Pro666Ala
NR_045662.4:n.2655C>G
NR_045663.4:n.3192C>G
NM_001256267.2:c.3118C>G	NP_001243196.1:p.Pro1040Ala
NM_001256268.2:c.2236C>G	NP_001243197.1:p.Pro746Ala
NM_032578.4:c.3118C>G MANE Select	NP_115967.2:p.Pro1040Ala