Canonical Allele Identifier: CA348400938

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183664A>C (hg19) ; chr2:g.127426088A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426088A>C , CM000664.2:g.127426088A>C	GRCh38
NC_000002.11:g.128183664A>C , CM000664.1:g.128183664A>C	GRCh37
NC_000002.10:g.127900134A>C	NCBI36
NG_016323.1:g.12669A>C , LRG_599:g.12669A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.539A>C MANE Select	ENSP00000234071.4:p.Lys180Thr
ENST00000234071.7:c.539A>C	ENSP00000234071.3:p.Lys180Thr
ENST00000402125.2:c.121-2269A>C
ENST00000409048.1:c.641A>C	ENSP00000386679.1:p.Lys214Thr
ENST00000442644.5:c.482A>C	ENSP00000411241.1:p.Lys161Thr
ENST00000464089.1:n.125A>C
NM_000312.3:c.539A>C , LRG_599t1:c.539A>C	NP_000303.1:p.Lys180Thr
XM_005263715.3:c.722A>C	XP_005263772.1:p.Lys241Thr
XM_005263716.3:c.704A>C	XP_005263773.1:p.Lys235Thr
XM_005263717.3:c.602A>C	XP_005263774.1:p.Lys201Thr
XM_005263717.4:c.602A>C	XP_005263774.1:p.Lys201Thr
XM_017004505.1:c.782A>C	XP_016859994.1:p.Lys261Thr
XM_024453002.1:c.884A>C	XP_024308770.1:p.Lys295Thr
XM_024453003.1:c.824A>C	XP_024308771.1:p.Lys275Thr
XM_024453004.1:c.722A>C	XP_024308772.1:p.Lys241Thr
XM_024453005.1:c.704A>C	XP_024308773.1:p.Lys235Thr
XM_024453006.1:c.641A>C	XP_024308774.1:p.Lys214Thr
XR_923313.2:n.4497T>G
NM_000312.4:c.539A>C MANE Select	NP_000303.1:p.Lys180Thr
NM_001375602.1:c.722A>C	NP_001362531.1:p.Lys241Thr
NM_001375603.1:c.704A>C	NP_001362532.1:p.Lys235Thr
NM_001375604.1:c.602A>C	NP_001362533.1:p.Lys201Thr
NM_001375605.1:c.641A>C	NP_001362534.1:p.Lys214Thr
NM_001375606.1:c.707A>C	NP_001362535.1:p.Lys236Thr
NM_001375607.1:c.725A>C	NP_001362536.1:p.Lys242Thr
NM_001375608.1:c.482A>C	NP_001362537.1:p.Lys161Thr
NM_001375609.1:c.515A>C	NP_001362538.1:p.Lys172Thr
NM_001375610.1:c.533A>C	NP_001362539.1:p.Lys178Thr
NM_001375611.1:c.539A>C	NP_001362540.1:p.Lys180Thr
NM_001375613.1:c.539A>C	NP_001362542.1:p.Lys180Thr