Canonical Allele Identifier: CA339940

Gene: PC

Linked Data

• ClinVar Variation Id: 2096
• ClinVar RCV Id: RCV000002177
• dbSNP Id: rs28940591
• MyVariant Identifiers: chr11:g.66638839A>G (hg19) ; chr11:g.66871368A>G (hg38)
• PubMed: PMID:9585002 ; PMID:20301301 ; PMID:20301764

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66871368A>G , CM000673.2:g.66871368A>G	GRCh38
NC_000011.9:g.66638839A>G , CM000673.1:g.66638839A>G	GRCh37
NC_000011.8:g.66395415A>G	NCBI36
NG_008319.1:g.92009T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393958.7:c.434T>C	ENSP00000377530.2:p.Val145Ala
ENST00000393960.7:c.434T>C MANE Select	ENSP00000377532.1:p.Val145Ala
ENST00000524491.6:c.434T>C	ENSP00000434192.2:p.Val145Ala
ENST00000525476.2:n.290-21303T>C
ENST00000528224.2:c.434T>C	ENSP00000498317.1:p.Val145Ala
ENST00000528403.6:c.434T>C	ENSP00000498816.1:p.Val145Ala
ENST00000529047.6:c.434T>C	ENSP00000435905.2:p.Val145Ala
ENST00000651036.1:c.434T>C	ENSP00000498406.1:p.Val145Ala
ENST00000651469.1:c.434T>C	ENSP00000498712.1:p.Val145Ala
ENST00000651854.1:c.434T>C	ENSP00000498994.1:p.Val145Ala
ENST00000652125.1:c.434T>C	ENSP00000498302.1:p.Val145Ala
ENST00000393955.6:c.434T>C	ENSP00000377527.2:p.Val145Ala
ENST00000393958.6:c.434T>C	ENSP00000377530.2:p.Val145Ala
ENST00000393960.5:c.434T>C	ENSP00000377532.1:p.Val145Ala
ENST00000524491.5:c.314T>C	ENSP00000434192.1:p.Val105Ala
ENST00000531614.5:n.636T>C
ENST00000628663.1:c.314T>C	ENSP00000486373.1:p.Val105Ala
NM_000920.3:c.434T>C	NP_000911.2:p.Val145Ala
NM_001040716.1:c.434T>C	NP_001035806.1:p.Val145Ala
NM_022172.2:c.434T>C	NP_071504.2:p.Val145Ala
XM_005274031.3:c.434T>C	XP_005274088.1:p.Val145Ala
XM_005274032.3:c.434T>C	XP_005274089.1:p.Val145Ala
XM_006718577.2:c.434T>C	XP_006718640.1:p.Val145Ala
XM_006718578.2:c.434T>C	XP_006718641.1:p.Val145Ala
XM_011545085.1:c.434T>C	XP_011543387.1:p.Val145Ala
XM_011545086.1:c.434T>C	XP_011543388.1:p.Val145Ala
XM_005274031.4:c.434T>C	XP_005274088.1:p.Val145Ala
XM_005274032.4:c.434T>C	XP_005274089.1:p.Val145Ala
XM_006718578.3:c.434T>C	XP_006718641.1:p.Val145Ala
XM_011545086.2:c.434T>C	XP_011543388.1:p.Val145Ala
XM_017017868.1:c.434T>C	XP_016873357.1:p.Val145Ala
XM_017017869.1:c.434T>C	XP_016873358.1:p.Val145Ala
XM_017017870.1:c.434T>C	XP_016873359.1:p.Val145Ala
XM_017017871.1:c.434T>C	XP_016873360.1:p.Val145Ala
XM_017017872.2:c.434T>C	XP_016873361.1:p.Val145Ala
NM_000920.4:c.434T>C	NP_000911.2:p.Val145Ala
NM_001040716.2:c.434T>C MANE Select	NP_001035806.1:p.Val145Ala
NM_022172.3:c.434T>C	NP_071504.2:p.Val145Ala