Canonical Allele Identifier: CA348405674

Gene: PROC

Linked Data

• dbSNP Id: rs1688684272
• gnomAD v3: 2-127428619-G-C
• gnomAD v4: 2-127428619-G-C
• MyVariant Identifiers: chr2:g.128186195G>C (hg19) ; chr2:g.127428619G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428619G>C , CM000664.2:g.127428619G>C	GRCh38
NC_000002.11:g.128186195G>C , CM000664.1:g.128186195G>C	GRCh37
NC_000002.10:g.127902665G>C	NCBI36
NG_016323.1:g.15200G>C , LRG_599:g.15200G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1059G>C MANE Select	ENSP00000234071.4:p.Lys353Asn
ENST00000234071.7:c.1059G>C	ENSP00000234071.3:p.Lys353Asn
ENST00000402125.2:c.383G>C
ENST00000409048.1:c.1161G>C	ENSP00000386679.1:p.Lys387Asn
NM_000312.3:c.1059G>C , LRG_599t1:c.1059G>C	NP_000303.1:p.Lys353Asn
XM_005263715.3:c.1242G>C	XP_005263772.1:p.Lys414Asn
XM_005263716.3:c.1224G>C	XP_005263773.1:p.Lys408Asn
XM_005263717.3:c.1122G>C	XP_005263774.1:p.Lys374Asn
XR_923313.1:n.1332-355C>G
XM_005263717.4:c.1122G>C	XP_005263774.1:p.Lys374Asn
XM_017004505.1:c.1302G>C	XP_016859994.1:p.Lys434Asn
XM_024453002.1:c.1404G>C	XP_024308770.1:p.Lys468Asn
XM_024453003.1:c.1344G>C	XP_024308771.1:p.Lys448Asn
XM_024453004.1:c.1242G>C	XP_024308772.1:p.Lys414Asn
XM_024453005.1:c.1224G>C	XP_024308773.1:p.Lys408Asn
XM_024453006.1:c.1161G>C	XP_024308774.1:p.Lys387Asn
XR_001739705.1:n.3607-355C>G
XR_923313.2:n.4043-355C>G
NM_000312.4:c.1059G>C MANE Select	NP_000303.1:p.Lys353Asn
NM_001375602.1:c.1242G>C	NP_001362531.1:p.Lys414Asn
NM_001375603.1:c.1224G>C	NP_001362532.1:p.Lys408Asn
NM_001375604.1:c.1122G>C	NP_001362533.1:p.Lys374Asn
NM_001375605.1:c.1161G>C	NP_001362534.1:p.Lys387Asn
NM_001375606.1:c.1227G>C	NP_001362535.1:p.Lys409Asn
NM_001375607.1:c.1245G>C	NP_001362536.1:p.Lys415Asn
NM_001375608.1:c.1002G>C	NP_001362537.1:p.Lys334Asn
NM_001375609.1:c.1035G>C	NP_001362538.1:p.Lys345Asn
NM_001375610.1:c.1053G>C	NP_001362539.1:p.Lys351Asn
NM_001375611.1:c.1059G>C	NP_001362540.1:p.Lys353Asn
NM_001375613.1:c.1059G>C	NP_001362542.1:p.Lys353Asn