Canonical Allele Identifier: CA8644246
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs772121804

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185851C>G , CM000679.2:g.50185851C>G GRCh38
NC_000017.10:g.48263212C>G , CM000679.1:g.48263212C>G GRCh37
NC_000017.9:g.45618211C>G NCBI36
NG_007400.1:g.20789G>C , LRG_1:g.20789G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4175G>C MANE Select ENSP00000225964.6:p.Gly1392Ala
ENST00000225964.9:c.4175G>C ENSP00000225964.5:p.Gly1392Ala
ENST00000510710.3:n.1140G>C
NM_000088.3:c.4175G>C , LRG_1t1:c.4175G>C NP_000079.2:p.Gly1392Ala
XM_005257058.3:c.3905G>C XP_005257115.2:p.Gly1302Ala
XM_005257059.3:c.3257G>C XP_005257116.2:p.Gly1086Ala
XM_011524341.1:c.3977G>C XP_011522643.1:p.Gly1326Ala
XM_005257058.4:c.3905G>C XP_005257115.2:p.Gly1302Ala
XM_005257059.4:c.3257G>C XP_005257116.2:p.Gly1086Ala
NM_000088.4:c.4175G>C MANE Select NP_000079.2:p.Gly1392Ala