Canonical Allele Identifier: CA348406117

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186307C>T (hg19) ; chr2:g.127428731C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428731C>T , CM000664.2:g.127428731C>T	GRCh38
NC_000002.11:g.128186307C>T , CM000664.1:g.128186307C>T	GRCh37
NC_000002.10:g.127902777C>T	NCBI36
NG_016323.1:g.15312C>T , LRG_599:g.15312C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1171C>T MANE Select	ENSP00000234071.4:p.Leu391Phe
ENST00000234071.7:c.1171C>T	ENSP00000234071.3:p.Leu391Phe
ENST00000402125.2:c.495C>T
ENST00000409048.1:c.1273C>T	ENSP00000386679.1:p.Leu425Phe
NM_000312.3:c.1171C>T , LRG_599t1:c.1171C>T	NP_000303.1:p.Leu391Phe
XM_005263715.3:c.1354C>T	XP_005263772.1:p.Leu452Phe
XM_005263716.3:c.1336C>T	XP_005263773.1:p.Leu446Phe
XM_005263717.3:c.1234C>T	XP_005263774.1:p.Leu412Phe
XR_923313.1:n.1332-467G>A
XM_005263717.4:c.1234C>T	XP_005263774.1:p.Leu412Phe
XM_017004505.1:c.1414C>T	XP_016859994.1:p.Leu472Phe
XM_024453002.1:c.1516C>T	XP_024308770.1:p.Leu506Phe
XM_024453003.1:c.1456C>T	XP_024308771.1:p.Leu486Phe
XM_024453004.1:c.1354C>T	XP_024308772.1:p.Leu452Phe
XM_024453005.1:c.1336C>T	XP_024308773.1:p.Leu446Phe
XM_024453006.1:c.1273C>T	XP_024308774.1:p.Leu425Phe
XR_001739705.1:n.3607-467G>A
XR_923313.2:n.4043-467G>A
NM_000312.4:c.1171C>T MANE Select	NP_000303.1:p.Leu391Phe
NM_001375602.1:c.1354C>T	NP_001362531.1:p.Leu452Phe
NM_001375603.1:c.1336C>T	NP_001362532.1:p.Leu446Phe
NM_001375604.1:c.1234C>T	NP_001362533.1:p.Leu412Phe
NM_001375605.1:c.1273C>T	NP_001362534.1:p.Leu425Phe
NM_001375606.1:c.1339C>T	NP_001362535.1:p.Leu447Phe
NM_001375607.1:c.1357C>T	NP_001362536.1:p.Leu453Phe
NM_001375608.1:c.1114C>T	NP_001362537.1:p.Leu372Phe
NM_001375609.1:c.1147C>T	NP_001362538.1:p.Leu383Phe
NM_001375610.1:c.1165C>T	NP_001362539.1:p.Leu389Phe
NM_001375611.1:c.1171C>T	NP_001362540.1:p.Leu391Phe
NM_001375613.1:c.1171C>T	NP_001362542.1:p.Leu391Phe