Canonical Allele Identifier: CA348404284

Gene: PROC

Linked Data

• gnomAD v4: 2-127428375-G-T
• MyVariant Identifiers: chr2:g.128185951G>T (hg19) ; chr2:g.127428375G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428375G>T , CM000664.2:g.127428375G>T	GRCh38
NC_000002.11:g.128185951G>T , CM000664.1:g.128185951G>T	GRCh37
NC_000002.10:g.127902421G>T	NCBI36
NG_016323.1:g.14956G>T , LRG_599:g.14956G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.815G>T MANE Select	ENSP00000234071.4:p.Arg272Leu
ENST00000234071.7:c.815G>T	ENSP00000234071.3:p.Arg272Leu
ENST00000402125.2:c.139G>T
ENST00000409048.1:c.917G>T	ENSP00000386679.1:p.Arg306Leu
NM_000312.3:c.815G>T , LRG_599t1:c.815G>T	NP_000303.1:p.Arg272Leu
XM_005263715.3:c.998G>T	XP_005263772.1:p.Arg333Leu
XM_005263716.3:c.980G>T	XP_005263773.1:p.Arg327Leu
XM_005263717.3:c.878G>T	XP_005263774.1:p.Arg293Leu
XR_923313.1:n.1332-111C>A
XM_005263717.4:c.878G>T	XP_005263774.1:p.Arg293Leu
XM_017004505.1:c.1058G>T	XP_016859994.1:p.Arg353Leu
XM_024453002.1:c.1160G>T	XP_024308770.1:p.Arg387Leu
XM_024453003.1:c.1100G>T	XP_024308771.1:p.Arg367Leu
XM_024453004.1:c.998G>T	XP_024308772.1:p.Arg333Leu
XM_024453005.1:c.980G>T	XP_024308773.1:p.Arg327Leu
XM_024453006.1:c.917G>T	XP_024308774.1:p.Arg306Leu
XR_001739705.1:n.3607-111C>A
XR_923313.2:n.4043-111C>A
NM_000312.4:c.815G>T MANE Select	NP_000303.1:p.Arg272Leu
NM_001375602.1:c.998G>T	NP_001362531.1:p.Arg333Leu
NM_001375603.1:c.980G>T	NP_001362532.1:p.Arg327Leu
NM_001375604.1:c.878G>T	NP_001362533.1:p.Arg293Leu
NM_001375605.1:c.917G>T	NP_001362534.1:p.Arg306Leu
NM_001375606.1:c.983G>T	NP_001362535.1:p.Arg328Leu
NM_001375607.1:c.1001G>T	NP_001362536.1:p.Arg334Leu
NM_001375608.1:c.758G>T	NP_001362537.1:p.Arg253Leu
NM_001375609.1:c.791G>T	NP_001362538.1:p.Arg264Leu
NM_001375610.1:c.809G>T	NP_001362539.1:p.Arg270Leu
NM_001375611.1:c.815G>T	NP_001362540.1:p.Arg272Leu
NM_001375613.1:c.815G>T	NP_001362542.1:p.Arg272Leu