Canonical Allele Identifier: CA400191614

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 3062269
• ClinVar RCV Id: RCV003985991
• MyVariant Identifiers: chr17:g.48263186C>A (hg19) ; chr17:g.50185825C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185825C>A , CM000679.2:g.50185825C>A	GRCh38
NC_000017.10:g.48263186C>A , CM000679.1:g.48263186C>A	GRCh37
NC_000017.9:g.45618185C>A	NCBI36
NG_007400.1:g.20815G>T , LRG_1:g.20815G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4201G>T MANE Select	ENSP00000225964.6:p.Glu1401Ter
ENST00000225964.9:c.4201G>T	ENSP00000225964.5:p.Glu1401Ter
NM_000088.3:c.4201G>T , LRG_1t1:c.4201G>T	NP_000079.2:p.Glu1401Ter
XM_005257058.3:c.3931G>T	XP_005257115.2:p.Glu1311Ter
XM_005257059.3:c.3283G>T	XP_005257116.2:p.Glu1095Ter
XM_011524341.1:c.4003G>T	XP_011522643.1:p.Glu1335Ter
XM_005257058.4:c.3931G>T	XP_005257115.2:p.Glu1311Ter
XM_005257059.4:c.3283G>T	XP_005257116.2:p.Glu1095Ter
NM_000088.4:c.4201G>T MANE Select	NP_000079.2:p.Glu1401Ter