Canonical Allele Identifier: CA348405650

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186186G>T (hg19) ; chr2:g.127428610G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428610G>T , CM000664.2:g.127428610G>T	GRCh38
NC_000002.11:g.128186186G>T , CM000664.1:g.128186186G>T	GRCh37
NC_000002.10:g.127902656G>T	NCBI36
NG_016323.1:g.15191G>T , LRG_599:g.15191G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1050G>T MANE Select	ENSP00000234071.4:p.Lys350Asn
ENST00000234071.7:c.1050G>T	ENSP00000234071.3:p.Lys350Asn
ENST00000402125.2:c.374G>T
ENST00000409048.1:c.1152G>T	ENSP00000386679.1:p.Lys384Asn
NM_000312.3:c.1050G>T , LRG_599t1:c.1050G>T	NP_000303.1:p.Lys350Asn
XM_005263715.3:c.1233G>T	XP_005263772.1:p.Lys411Asn
XM_005263716.3:c.1215G>T	XP_005263773.1:p.Lys405Asn
XM_005263717.3:c.1113G>T	XP_005263774.1:p.Lys371Asn
XR_923313.1:n.1332-346C>A
XM_005263717.4:c.1113G>T	XP_005263774.1:p.Lys371Asn
XM_017004505.1:c.1293G>T	XP_016859994.1:p.Lys431Asn
XM_024453002.1:c.1395G>T	XP_024308770.1:p.Lys465Asn
XM_024453003.1:c.1335G>T	XP_024308771.1:p.Lys445Asn
XM_024453004.1:c.1233G>T	XP_024308772.1:p.Lys411Asn
XM_024453005.1:c.1215G>T	XP_024308773.1:p.Lys405Asn
XM_024453006.1:c.1152G>T	XP_024308774.1:p.Lys384Asn
XR_001739705.1:n.3607-346C>A
XR_923313.2:n.4043-346C>A
NM_000312.4:c.1050G>T MANE Select	NP_000303.1:p.Lys350Asn
NM_001375602.1:c.1233G>T	NP_001362531.1:p.Lys411Asn
NM_001375603.1:c.1215G>T	NP_001362532.1:p.Lys405Asn
NM_001375604.1:c.1113G>T	NP_001362533.1:p.Lys371Asn
NM_001375605.1:c.1152G>T	NP_001362534.1:p.Lys384Asn
NM_001375606.1:c.1218G>T	NP_001362535.1:p.Lys406Asn
NM_001375607.1:c.1236G>T	NP_001362536.1:p.Lys412Asn
NM_001375608.1:c.993G>T	NP_001362537.1:p.Lys331Asn
NM_001375609.1:c.1026G>T	NP_001362538.1:p.Lys342Asn
NM_001375610.1:c.1044G>T	NP_001362539.1:p.Lys348Asn
NM_001375611.1:c.1050G>T	NP_001362540.1:p.Lys350Asn
NM_001375613.1:c.1050G>T	NP_001362542.1:p.Lys350Asn