Canonical Allele Identifier: CA306045421

Gene: CPAMD8

Linked Data

• dbSNP Id: rs891328613
• gnomAD v2: 19-17118348-A-G
• gnomAD v3: 19-17007538-A-G
• gnomAD v4: 19-17007538-A-G
• MyVariant Identifiers: chr19:g.17118348A>G (hg19) ; chr19:g.17007538A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17007538A>G , CM000681.2:g.17007538A>G	GRCh38
NC_000019.9:g.17118348A>G , CM000681.1:g.17118348A>G	GRCh37
NC_000019.8:g.16979348A>G	NCBI36
NG_054892.1:g.24281T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000651564.2:c.559+967T>C	ENSP00000498697.2:n.559+967T>C
ENST00000291440.4:c.559+967T>C	ENSP00000291440.4:n.559+967T>C
ENST00000443236.7:c.559+967T>C MANE Select	ENSP00000402505.3:n.559+967T>C
ENST00000651564.1:c.700+967T>C	ENSP00000498697.1:n.700+967T>C
ENST00000291440.3:c.700+967T>C	ENSP00000291440.3:n.700+967T>C
ENST00000388925.8:c.559+967T>C	ENSP00000373577.4:n.559+967T>C
ENST00000443236.5:c.700+967T>C	ENSP00000402505.2:n.700+967T>C
NM_015692.2:c.700+967T>C	NP_056507.2:n.700+967T>C
XM_011527917.1:c.664+967T>C	XP_011526219.1:n.664+967T>C
XM_011527918.1:c.700+967T>C	XP_011526220.1:n.700+967T>C
XM_011527919.1:c.700+967T>C	XP_011526221.1:n.700+967T>C
XM_011527920.1:c.700+967T>C	XP_011526222.1:n.700+967T>C
XM_011527921.1:c.700+967T>C	XP_011526223.1:n.700+967T>C
XM_011527922.1:c.700+967T>C	XP_011526224.1:n.700+967T>C
XM_011527923.1:c.700+967T>C	XP_011526225.1:n.700+967T>C
XM_011527924.1:c.700+967T>C	XP_011526226.1:n.700+967T>C
NM_015692.4:c.559+967T>C	NP_056507.3:n.559+967T>C
XM_011527920.2:c.700+967T>C	XP_011526222.1:n.700+967T>C
XM_011527921.3:c.700+967T>C	XP_011526223.1:n.700+967T>C
XM_011527924.2:c.700+967T>C	XP_011526226.1:n.700+967T>C
XM_017026594.1:c.700+967T>C	XP_016882083.1:n.700+967T>C
NM_015692.5:c.559+967T>C MANE Select	NP_056507.3:n.559+967T>C
NR_165644.1:n.727+967T>C