Canonical Allele Identifier: CA348406584

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186422T>C (hg19) ; chr2:g.127428846T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428846T>C , CM000664.2:g.127428846T>C	GRCh38
NC_000002.11:g.128186422T>C , CM000664.1:g.128186422T>C	GRCh37
NC_000002.10:g.127902892T>C	NCBI36
NG_016323.1:g.15427T>C , LRG_599:g.15427T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1286T>C MANE Select	ENSP00000234071.4:p.Leu429Pro
ENST00000234071.7:c.1286T>C	ENSP00000234071.3:p.Leu429Pro
ENST00000402125.2:c.610T>C
ENST00000409048.1:c.1388T>C	ENSP00000386679.1:p.Leu463Pro
NM_000312.3:c.1286T>C , LRG_599t1:c.1286T>C	NP_000303.1:p.Leu429Pro
XM_005263715.3:c.1469T>C	XP_005263772.1:p.Leu490Pro
XM_005263716.3:c.1451T>C	XP_005263773.1:p.Leu484Pro
XM_005263717.3:c.1349T>C	XP_005263774.1:p.Leu450Pro
XR_923313.1:n.1332-582A>G
XM_005263717.4:c.1349T>C	XP_005263774.1:p.Leu450Pro
XM_017004505.1:c.1529T>C	XP_016859994.1:p.Leu510Pro
XM_024453002.1:c.1631T>C	XP_024308770.1:p.Leu544Pro
XM_024453003.1:c.1571T>C	XP_024308771.1:p.Leu524Pro
XM_024453004.1:c.1469T>C	XP_024308772.1:p.Leu490Pro
XM_024453005.1:c.1451T>C	XP_024308773.1:p.Leu484Pro
XM_024453006.1:c.1388T>C	XP_024308774.1:p.Leu463Pro
XR_001739705.1:n.3607-582A>G
XR_923313.2:n.4043-582A>G
NM_000312.4:c.1286T>C MANE Select	NP_000303.1:p.Leu429Pro
NM_001375602.1:c.1469T>C	NP_001362531.1:p.Leu490Pro
NM_001375603.1:c.1451T>C	NP_001362532.1:p.Leu484Pro
NM_001375604.1:c.1349T>C	NP_001362533.1:p.Leu450Pro
NM_001375605.1:c.1388T>C	NP_001362534.1:p.Leu463Pro
NM_001375606.1:c.1454T>C	NP_001362535.1:p.Leu485Pro
NM_001375607.1:c.1472T>C	NP_001362536.1:p.Leu491Pro
NM_001375608.1:c.1229T>C	NP_001362537.1:p.Leu410Pro
NM_001375609.1:c.1262T>C	NP_001362538.1:p.Leu421Pro
NM_001375610.1:c.1280T>C	NP_001362539.1:p.Leu427Pro
NM_001375611.1:c.1286T>C	NP_001362540.1:p.Leu429Pro
NM_001375613.1:c.1286T>C	NP_001362542.1:p.Leu429Pro