Canonical Allele Identifier: CA493605985

Linked Data

MyVariant Identifiers: chr16:g.11375090G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11281233G>C , CM000678.2:g.11281233G>C GRCh38
NC_000016.9:g.11375090G>C , CM000678.1:g.11375090G>C GRCh37
NC_000016.8:g.11282591G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000312511.4:c.6C>G (PRM1) MANE Select ENSP00000310515.3:p.Ala2=
ENST00000649869.1:n.152+31455G>C (RMI2)
ENST00000312511.3:c.6C>G (PRM1) ENSP00000310515.3:p.Ala2=
ENST00000572173.1:c.-515-13983G>C (RMI2) ENSP00000461206.1:n.-515-13983G>C
ENST00000573910.1:n.160+31455G>C (RMI2)
NM_002761.2:c.6C>G (PRM1) NP_002752.1:p.Ala2=
XR_933070.1:n.733+31455G>C
XR_933070.3:n.876+31455G>C
NM_002761.3:c.6C>G (PRM1) MANE Select NP_002752.1:p.Ala2=