Canonical Allele Identifier: CA260275
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 35901
ClinVar RCV Id: RCV000029556
dbSNP Id: rs193922140

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194419C>G , CM000679.2:g.50194419C>G GRCh38
NC_000017.10:g.48271780C>G , CM000679.1:g.48271780C>G GRCh37
NC_000017.9:g.45626779C>G NCBI36
NG_007400.1:g.12221G>C , LRG_1:g.12221G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.1544G>C MANE Select ENSP00000225964.6:p.Gly515Ala
ENST00000225964.9:c.1544G>C ENSP00000225964.5:p.Gly515Ala
ENST00000471344.1:n.488G>C
NM_000088.3:c.1544G>C , LRG_1t1:c.1544G>C NP_000079.2:p.Gly515Ala
XM_005257058.3:c.1544G>C XP_005257115.2:p.Gly515Ala
XM_005257059.3:c.958-1726G>C XP_005257116.2:n.958-1726G>C
XM_011524341.1:c.1346G>C XP_011522643.1:p.Gly449Ala
XM_005257058.4:c.1544G>C XP_005257115.2:p.Gly515Ala
XM_005257059.4:c.958-1726G>C XP_005257116.2:n.958-1726G>C
NM_000088.4:c.1544G>C MANE Select NP_000079.2:p.Gly515Ala