Canonical Allele Identifier: CA400191949

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263248T>A (hg19) ; chr17:g.50185887T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185887T>A , CM000679.2:g.50185887T>A	GRCh38
NC_000017.10:g.48263248T>A , CM000679.1:g.48263248T>A	GRCh37
NC_000017.9:g.45618247T>A	NCBI36
NG_007400.1:g.20753A>T , LRG_1:g.20753A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4139A>T MANE Select	ENSP00000225964.6:p.Gln1380Leu
ENST00000225964.9:c.4139A>T	ENSP00000225964.5:p.Gln1380Leu
ENST00000510710.3:n.1104A>T
NM_000088.3:c.4139A>T , LRG_1t1:c.4139A>T	NP_000079.2:p.Gln1380Leu
XM_005257058.3:c.3869A>T	XP_005257115.2:p.Gln1290Leu
XM_005257059.3:c.3221A>T	XP_005257116.2:p.Gln1074Leu
XM_011524341.1:c.3941A>T	XP_011522643.1:p.Gln1314Leu
XM_005257058.4:c.3869A>T	XP_005257115.2:p.Gln1290Leu
XM_005257059.4:c.3221A>T	XP_005257116.2:p.Gln1074Leu
NM_000088.4:c.4139A>T MANE Select	NP_000079.2:p.Gln1380Leu