Canonical Allele Identifier: CA400191810

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263227G>C (hg19) ; chr17:g.50185866G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185866G>C , CM000679.2:g.50185866G>C	GRCh38
NC_000017.10:g.48263227G>C , CM000679.1:g.48263227G>C	GRCh37
NC_000017.9:g.45618226G>C	NCBI36
NG_007400.1:g.20774C>G , LRG_1:g.20774C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4160C>G MANE Select	ENSP00000225964.6:p.Ala1387Gly
ENST00000225964.9:c.4160C>G	ENSP00000225964.5:p.Ala1387Gly
ENST00000510710.3:n.1125C>G
NM_000088.3:c.4160C>G , LRG_1t1:c.4160C>G	NP_000079.2:p.Ala1387Gly
XM_005257058.3:c.3890C>G	XP_005257115.2:p.Ala1297Gly
XM_005257059.3:c.3242C>G	XP_005257116.2:p.Ala1081Gly
XM_011524341.1:c.3962C>G	XP_011522643.1:p.Ala1321Gly
XM_005257058.4:c.3890C>G	XP_005257115.2:p.Ala1297Gly
XM_005257059.4:c.3242C>G	XP_005257116.2:p.Ala1081Gly
NM_000088.4:c.4160C>G MANE Select	NP_000079.2:p.Ala1387Gly