Canonical Allele Identifier: CA1859464

Gene: PROC

Linked Data

• ClinVar Variation Id: 536970
• ClinVar RCV Id: RCV000645701 ; RCV002269295 ; RCV002507104
• dbSNP Id: rs767112991
• ExAC: 2:128185947 C / T
• gnomAD v2: 2-128185947-C-T
• gnomAD v3: 2-127428371-C-T
• gnomAD v4: 2-127428371-C-T
• COSMIC: COSM3042317 ; COSM4303059
• MyVariant Identifiers: chr2:g.128185947C>T (hg19) ; chr2:g.127428371C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428371C>T , CM000664.2:g.127428371C>T	GRCh38
NC_000002.11:g.128185947C>T , CM000664.1:g.128185947C>T	GRCh37
NC_000002.10:g.127902417C>T	NCBI36
NG_016323.1:g.14952C>T , LRG_599:g.14952C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.811C>T MANE Select	ENSP00000234071.4:p.Arg271Trp
ENST00000234071.7:c.811C>T	ENSP00000234071.3:p.Arg271Trp
ENST00000402125.2:c.135C>T
ENST00000409048.1:c.913C>T	ENSP00000386679.1:p.Arg305Trp
NM_000312.3:c.811C>T , LRG_599t1:c.811C>T	NP_000303.1:p.Arg271Trp
XM_005263715.3:c.994C>T	XP_005263772.1:p.Arg332Trp
XM_005263716.3:c.976C>T	XP_005263773.1:p.Arg326Trp
XM_005263717.3:c.874C>T	XP_005263774.1:p.Arg292Trp
XR_923313.1:n.1332-107G>A
XM_005263717.4:c.874C>T	XP_005263774.1:p.Arg292Trp
XM_017004505.1:c.1054C>T	XP_016859994.1:p.Arg352Trp
XM_024453002.1:c.1156C>T	XP_024308770.1:p.Arg386Trp
XM_024453003.1:c.1096C>T	XP_024308771.1:p.Arg366Trp
XM_024453004.1:c.994C>T	XP_024308772.1:p.Arg332Trp
XM_024453005.1:c.976C>T	XP_024308773.1:p.Arg326Trp
XM_024453006.1:c.913C>T	XP_024308774.1:p.Arg305Trp
XR_001739705.1:n.3607-107G>A
XR_923313.2:n.4043-107G>A
NM_000312.4:c.811C>T MANE Select	NP_000303.1:p.Arg271Trp
NM_001375602.1:c.994C>T	NP_001362531.1:p.Arg332Trp
NM_001375603.1:c.976C>T	NP_001362532.1:p.Arg326Trp
NM_001375604.1:c.874C>T	NP_001362533.1:p.Arg292Trp
NM_001375605.1:c.913C>T	NP_001362534.1:p.Arg305Trp
NM_001375606.1:c.979C>T	NP_001362535.1:p.Arg327Trp
NM_001375607.1:c.997C>T	NP_001362536.1:p.Arg333Trp
NM_001375608.1:c.754C>T	NP_001362537.1:p.Arg252Trp
NM_001375609.1:c.787C>T	NP_001362538.1:p.Arg263Trp
NM_001375610.1:c.805C>T	NP_001362539.1:p.Arg269Trp
NM_001375611.1:c.811C>T	NP_001362540.1:p.Arg271Trp
NM_001375613.1:c.811C>T	NP_001362542.1:p.Arg271Trp