Canonical Allele Identifier: CA348400962

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183667T>C (hg19) ; chr2:g.127426091T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426091T>C , CM000664.2:g.127426091T>C	GRCh38
NC_000002.11:g.128183667T>C , CM000664.1:g.128183667T>C	GRCh37
NC_000002.10:g.127900137T>C	NCBI36
NG_016323.1:g.12672T>C , LRG_599:g.12672T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.542T>C MANE Select	ENSP00000234071.4:p.Phe181Ser
ENST00000234071.7:c.542T>C	ENSP00000234071.3:p.Phe181Ser
ENST00000402125.2:c.121-2266T>C
ENST00000409048.1:c.644T>C	ENSP00000386679.1:p.Phe215Ser
ENST00000442644.5:c.485T>C	ENSP00000411241.1:p.Phe162Ser
ENST00000464089.1:n.128T>C
NM_000312.3:c.542T>C , LRG_599t1:c.542T>C	NP_000303.1:p.Phe181Ser
XM_005263715.3:c.725T>C	XP_005263772.1:p.Phe242Ser
XM_005263716.3:c.707T>C	XP_005263773.1:p.Phe236Ser
XM_005263717.3:c.605T>C	XP_005263774.1:p.Phe202Ser
XM_005263717.4:c.605T>C	XP_005263774.1:p.Phe202Ser
XM_017004505.1:c.785T>C	XP_016859994.1:p.Phe262Ser
XM_024453002.1:c.887T>C	XP_024308770.1:p.Phe296Ser
XM_024453003.1:c.827T>C	XP_024308771.1:p.Phe276Ser
XM_024453004.1:c.725T>C	XP_024308772.1:p.Phe242Ser
XM_024453005.1:c.707T>C	XP_024308773.1:p.Phe236Ser
XM_024453006.1:c.644T>C	XP_024308774.1:p.Phe215Ser
XR_923313.2:n.4494A>G
NM_000312.4:c.542T>C MANE Select	NP_000303.1:p.Phe181Ser
NM_001375602.1:c.725T>C	NP_001362531.1:p.Phe242Ser
NM_001375603.1:c.707T>C	NP_001362532.1:p.Phe236Ser
NM_001375604.1:c.605T>C	NP_001362533.1:p.Phe202Ser
NM_001375605.1:c.644T>C	NP_001362534.1:p.Phe215Ser
NM_001375606.1:c.710T>C	NP_001362535.1:p.Phe237Ser
NM_001375607.1:c.728T>C	NP_001362536.1:p.Phe243Ser
NM_001375608.1:c.485T>C	NP_001362537.1:p.Phe162Ser
NM_001375609.1:c.518T>C	NP_001362538.1:p.Phe173Ser
NM_001375610.1:c.536T>C	NP_001362539.1:p.Phe179Ser
NM_001375611.1:c.542T>C	NP_001362540.1:p.Phe181Ser
NM_001375613.1:c.542T>C	NP_001362542.1:p.Phe181Ser