Canonical Allele Identifier: CA353234745
Community Standard Title: NM_006254.4(PRKCD):c.571+1G>A
Gene: PRKCD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53181733G>A , CM000665.2:g.53181733G>A GRCh38
NC_000003.11:g.53215749G>A , CM000665.1:g.53215749G>A GRCh37
NC_000003.10:g.53190789G>A NCBI36
NG_033864.1:g.25527G>A
NG_033864.2:g.30725G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006254.4:c.571+1G>A MANE Select NP_006245.2:n.571+1G>A
ENST00000330452.8:c.571+1G>A MANE Select ENSP00000331602.3:n.571+1G>A
NM_001316327.1:c.571+1G>A NP_001303256.1:n.571+1G>A
NM_001316327.2:c.571+1G>A NP_001303256.1:n.571+1G>A
NM_001354676.1:c.628+1G>A NP_001341605.1:n.628+1G>A
NM_001354676.2:c.628+1G>A NP_001341605.1:n.628+1G>A
NM_001354678.1:c.619+1G>A NP_001341607.1:n.619+1G>A
NM_001354678.2:c.619+1G>A NP_001341607.1:n.619+1G>A
NM_001354679.1:c.571+1G>A NP_001341608.1:n.571+1G>A
NM_001354679.2:c.571+1G>A NP_001341608.1:n.571+1G>A
NM_001354680.1:c.571+1G>A NP_001341609.1:n.571+1G>A
NM_001354680.2:c.571+1G>A NP_001341609.1:n.571+1G>A
NM_006254.3:c.571+1G>A NP_006245.2:n.571+1G>A
NM_212539.1:c.571+1G>A NP_997704.1:n.571+1G>A
NM_212539.2:c.571+1G>A NP_997704.1:n.571+1G>A
ENST00000330452.7:c.571+1G>A ENSP00000331602.3:n.571+1G>A
ENST00000394729.6:c.571+1G>A ENSP00000378217.2:n.571+1G>A
ENST00000464818.1:c.571+1G>A ENSP00000419629.1:n.571+1G>A
ENST00000650739.1:c.571+1G>A ENSP00000498623.1:n.571+1G>A
ENST00000650940.1:c.571+1G>A ENSP00000499184.1:n.571+1G>A
ENST00000651505.1:c.203+1G>A
ENST00000652449.1:c.571+1G>A ENSP00000498400.1:n.571+1G>A
ENST00000654719.1:c.571+1G>A ENSP00000499558.1:n.571+1G>A
ENST00000697588.1:c.571+1G>A ENSP00000513355.1:n.571+1G>A
XM_006713257.2:c.619+1G>A XP_006713320.1:n.619+1G>A
XM_006713259.2:c.571+1G>A XP_006713322.1:n.571+1G>A
XR_002959550.1:n.643+1G>A
XR_940474.1:n.590+1G>A