Canonical Allele Identifier: CA500991523

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263154A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185793A>G , CM000679.2:g.50185793A>G	GRCh38
NC_000017.10:g.48263154A>G , CM000679.1:g.48263154A>G	GRCh37
NC_000017.9:g.45618153A>G	NCBI36
NG_007400.1:g.20847T>C , LRG_1:g.20847T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4233T>C MANE Select	ENSP00000225964.6:p.Thr1411=
ENST00000225964.9:c.4233T>C	ENSP00000225964.5:p.Thr1411=
NM_000088.3:c.4233T>C , LRG_1t1:c.4233T>C	NP_000079.2:p.Thr1411=
XM_005257058.3:c.3963T>C	XP_005257115.2:p.Thr1321=
XM_005257059.3:c.3315T>C	XP_005257116.2:p.Thr1105=
XM_011524341.1:c.4035T>C	XP_011522643.1:p.Thr1345=
XM_005257058.4:c.3963T>C	XP_005257115.2:p.Thr1321=
XM_005257059.4:c.3315T>C	XP_005257116.2:p.Thr1105=
NM_000088.4:c.4233T>C MANE Select	NP_000079.2:p.Thr1411=