Canonical Allele Identifier: CA348401501

Gene: PROC

Linked Data

• dbSNP Id: rs1688485537
• gnomAD v3: 2-127426183-C-T
• gnomAD v4: 2-127426183-C-T
• MyVariant Identifiers: chr2:g.128183759C>T (hg19) ; chr2:g.127426183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426183C>T , CM000664.2:g.127426183C>T	GRCh38
NC_000002.11:g.128183759C>T , CM000664.1:g.128183759C>T	GRCh37
NC_000002.10:g.127900229C>T	NCBI36
NG_016323.1:g.12764C>T , LRG_599:g.12764C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.634C>T MANE Select	ENSP00000234071.4:p.Leu212Phe
ENST00000234071.7:c.634C>T	ENSP00000234071.3:p.Leu212Phe
ENST00000402125.2:c.121-2174C>T
ENST00000409048.1:c.736C>T	ENSP00000386679.1:p.Leu246Phe
ENST00000464089.1:n.220C>T
NM_000312.3:c.634C>T , LRG_599t1:c.634C>T	NP_000303.1:p.Leu212Phe
XM_005263715.3:c.817C>T	XP_005263772.1:p.Leu273Phe
XM_005263716.3:c.799C>T	XP_005263773.1:p.Leu267Phe
XM_005263717.3:c.697C>T	XP_005263774.1:p.Leu233Phe
XM_005263717.4:c.697C>T	XP_005263774.1:p.Leu233Phe
XM_017004505.1:c.877C>T	XP_016859994.1:p.Leu293Phe
XM_024453002.1:c.979C>T	XP_024308770.1:p.Leu327Phe
XM_024453003.1:c.919C>T	XP_024308771.1:p.Leu307Phe
XM_024453004.1:c.817C>T	XP_024308772.1:p.Leu273Phe
XM_024453005.1:c.799C>T	XP_024308773.1:p.Leu267Phe
XM_024453006.1:c.736C>T	XP_024308774.1:p.Leu246Phe
XR_923313.2:n.4402G>A
NM_000312.4:c.634C>T MANE Select	NP_000303.1:p.Leu212Phe
NM_001375602.1:c.817C>T	NP_001362531.1:p.Leu273Phe
NM_001375603.1:c.799C>T	NP_001362532.1:p.Leu267Phe
NM_001375604.1:c.697C>T	NP_001362533.1:p.Leu233Phe
NM_001375605.1:c.736C>T	NP_001362534.1:p.Leu246Phe
NM_001375606.1:c.802C>T	NP_001362535.1:p.Leu268Phe
NM_001375607.1:c.820C>T	NP_001362536.1:p.Leu274Phe
NM_001375608.1:c.577C>T	NP_001362537.1:p.Leu193Phe
NM_001375609.1:c.610C>T	NP_001362538.1:p.Leu204Phe
NM_001375610.1:c.628C>T	NP_001362539.1:p.Leu210Phe
NM_001375611.1:c.634C>T	NP_001362540.1:p.Leu212Phe
NM_001375613.1:c.634C>T	NP_001362542.1:p.Leu212Phe