Canonical Allele Identifier: CA400191157

Gene: COL1A1

Linked Data

• dbSNP Id: rs1312743176
• gnomAD v2: 17-48263141-T-C
• gnomAD v4: 17-50185780-T-C
• MyVariant Identifiers: chr17:g.48263141T>C (hg19) ; chr17:g.50185780T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185780T>C , CM000679.2:g.50185780T>C	GRCh38
NC_000017.10:g.48263141T>C , CM000679.1:g.48263141T>C	GRCh37
NC_000017.9:g.45618140T>C	NCBI36
NG_007400.1:g.20860A>G , LRG_1:g.20860A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4246A>G MANE Select	ENSP00000225964.6:p.Thr1416Ala
ENST00000225964.9:c.4246A>G	ENSP00000225964.5:p.Thr1416Ala
NM_000088.3:c.4246A>G , LRG_1t1:c.4246A>G	NP_000079.2:p.Thr1416Ala
XM_005257058.3:c.3976A>G	XP_005257115.2:p.Thr1326Ala
XM_005257059.3:c.3328A>G	XP_005257116.2:p.Thr1110Ala
XM_011524341.1:c.4048A>G	XP_011522643.1:p.Thr1350Ala
XM_005257058.4:c.3976A>G	XP_005257115.2:p.Thr1326Ala
XM_005257059.4:c.3328A>G	XP_005257116.2:p.Thr1110Ala
NM_000088.4:c.4246A>G MANE Select	NP_000079.2:p.Thr1416Ala