Canonical Allele Identifier: CA639574678

Gene: PARVB

Linked Data

• gnomAD v2: 22-44561254-T-C
• MyVariant Identifiers: chr22:g.44561254T>C (hg19) ; chr22:g.44165374T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.44165374T>C , CM000684.2:g.44165374T>C	GRCh38
NC_000022.10:g.44561254T>C , CM000684.1:g.44561254T>C	GRCh37
NC_000022.9:g.42892587T>C	NCBI36
NG_029743.1:g.171164T>C
NG_029743.2:g.171164T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338758.12:c.1018+1444T>C MANE Select	ENSP00000342492.6:n.1018+1444T>C
ENST00000338758.11:c.1018+1444T>C	ENSP00000342492.6:n.1018+1444T>C
ENST00000404989.1:c.907+1444T>C	ENSP00000384353.1:n.907+1444T>C
ENST00000406477.7:c.1117+1444T>C	ENSP00000384515.3:n.1117+1444T>C
ENST00000484345.1:n.191+1444T>C
ENST00000619710.4:c.793+1444T>C	ENSP00000482511.1:n.793+1444T>C
NM_001003828.2:c.1117+1444T>C	NP_001003828.1:n.1117+1444T>C
NM_001243385.1:c.907+1444T>C	NP_001230314.1:n.907+1444T>C
NM_001243386.1:c.793+1444T>C	NP_001230315.1:n.793+1444T>C
NM_013327.4:c.1018+1444T>C	NP_037459.2:n.1018+1444T>C
XM_005261596.1:c.862+1444T>C	XP_005261653.1:n.862+1444T>C
XM_017028792.2:c.949+1444T>C	XP_016884281.1:n.949+1444T>C
XM_024452235.1:c.1072+1444T>C	XP_024308003.1:n.1072+1444T>C
XM_024452236.1:c.1048+1444T>C	XP_024308004.1:n.1048+1444T>C
XM_024452237.1:c.907+1444T>C	XP_024308005.1:n.907+1444T>C
NM_001003828.3:c.1117+1444T>C	NP_001003828.1:n.1117+1444T>C
NM_001243385.2:c.907+1444T>C	NP_001230314.1:n.907+1444T>C
NM_001243386.2:c.793+1444T>C	NP_001230315.1:n.793+1444T>C
NM_013327.5:c.1018+1444T>C MANE Select	NP_037459.2:n.1018+1444T>C