Canonical Allele Identifier: CA400201251

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48265964G>A (hg19) ; chr17:g.50188603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188603G>A , CM000679.2:g.50188603G>A	GRCh38
NC_000017.10:g.48265964G>A , CM000679.1:g.48265964G>A	GRCh37
NC_000017.9:g.45620963G>A	NCBI36
NG_007400.1:g.18037C>T , LRG_1:g.18037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3134C>T MANE Select	ENSP00000225964.6:p.Pro1045Leu
ENST00000225964.9:c.3134C>T	ENSP00000225964.5:p.Pro1045Leu
ENST00000511732.1:n.78C>T
NM_000088.3:c.3134C>T , LRG_1t1:c.3134C>T	NP_000079.2:p.Pro1045Leu
XM_005257058.3:c.2864C>T	XP_005257115.2:p.Pro955Leu
XM_005257059.3:c.2216C>T	XP_005257116.2:p.Pro739Leu
XM_011524341.1:c.2936C>T	XP_011522643.1:p.Pro979Leu
XM_005257058.4:c.2864C>T	XP_005257115.2:p.Pro955Leu
XM_005257059.4:c.2216C>T	XP_005257116.2:p.Pro739Leu
NM_000088.4:c.3134C>T MANE Select	NP_000079.2:p.Pro1045Leu